Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Oncology Letters
      • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Biomedical Reports
      • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • Information for Authors
    • Information for Reviewers
    • Information for Librarians
    • Information for Advertisers
    • Conferences
  • Language Editing
Spandidos Publications Logo
  • About
    • About Spandidos
    • Aims and Scopes
    • Abstracting and Indexing
    • Editorial Policies
    • Reprints and Permissions
    • Job Opportunities
    • Terms and Conditions
    • Contact
  • Journals
    • All Journals
    • Biomedical Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Experimental and Therapeutic Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Epigenetics
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Functional Nutrition
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Molecular Medicine
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • International Journal of Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Medicine International
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular and Clinical Oncology
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Molecular Medicine Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Letters
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • Oncology Reports
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
    • World Academy of Sciences Journal
      • Information for Authors
      • Editorial Policies
      • Editorial Board
      • Aims and Scope
      • Abstracting and Indexing
      • Bibliographic Information
      • Archive
  • Articles
  • Information
    • For Authors
    • For Reviewers
    • For Librarians
    • For Advertisers
    • Conferences
  • Language Editing
Login Register Submit
  • This site uses cookies
  • You can change your cookie settings at any time by following the instructions in our Cookie Policy. To find out more, you may read our Privacy Policy.

    I agree
Search articles by DOI, keyword, author or affiliation
Search
Advanced Search
presentation
Experimental and Therapeutic Medicine
Join Editorial Board Propose a Special Issue
Print ISSN: 1792-0981 Online ISSN: 1792-1015
Journal Cover
August-2020 Volume 20 Issue 2

Full Size Image

Sign up for eToc alerts
Recommend to Library

Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

Journal Cover
August-2020 Volume 20 Issue 2

Full Size Image

Sign up for eToc alerts
Recommend to Library

  • Article
  • Citations
    • Cite This Article
    • Download Citation
    • Create Citation Alert
    • Remove Citation Alert
    • Cited By
  • Similar Articles
    • Related Articles (in Spandidos Publications)
    • Similar Articles (Google Scholar)
    • Similar Articles (PubMed)
  • Download PDF
  • Download XML
  • View XML

  • Supplementary Files
    • Supplementary_Data.pdf
Article Open Access

Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole‑exome sequencing

  • Authors:
    • Min Wang
    • Qian Li
    • Anchun Deng
    • Xianbai Zhu
    • Junjie Yang
  • View Affiliations / Copyright

    Affiliations: Department of Otorhinolaryngology and Head and Neck Surgery, Xinqiao Hospital, Army Medical University (Third Military Medical University), Chongqing 400037, P.R. China
    Copyright: © Wang et al. This is an open access article distributed under the terms of Creative Commons Attribution License.
  • Pages: 1447-1454
    |
    Published online on: June 12, 2020
       https://doi.org/10.3892/etm.2020.8890
  • Expand metrics +
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )
Cited By (CrossRef): 0 citations Loading Articles...

This article is mentioned in:



Abstract

Previous studies have identified ~50 genes that contribute to non‑syndromic autosomal dominant sensorineural deafness (DFNA). However, in numerous families with hearing loss, the specific gene mutation remains to be identified. In the present study, the clinical characteristics and gene mutations were analyzed in a Chinese pedigree with hereditary hearing loss. The clinical characteristics of the family members were assessed and a detailed audiology function examination was performed. Whole‑exome sequencing (WES) was performed to identify the gene mutation responsible for the hearing loss. Sanger sequencing was used to verify the candidate mutation detected in the family. The family consisted of 31 members, seven of whom were diagnosed with sensorineural deafness of varying degrees. No mutation was identified by the general deafness gene chip. However, a novel heterozygous mutation in exon 3 (c.152C>T; Pro51Leu) of the gene crystallin µ (CRYM) was identified by WES. This result was further verified by Sanger sequencing. Co‑segregation of genotypes and phenotypes suggested that this novel mutation was instrumental for the hearing loss/DFNA. In conclusion, the present study identified a novel pathogenic mutation, NM_001888.5(CRYM): c.152C>T(Pro51Leu), associated with DFNA. This mutation has not been reported previously and further functional studies are warranted.
View Figures

Figure 1

Figure 2

Figure 3

Figure 4

Figure 5

View References

1 

Sheffield AM and Smith RJH: The epidemiology of deafness. Cold Spring Harb Perspect Med. 9(a033258)2019.PubMed/NCBI View Article : Google Scholar

2 

Chadha S and Cieza A: World Health Organization and its initiative for ear and hearing care. Otolaryngol Clin North Am. 51:535–542. 2018.PubMed/NCBI View Article : Google Scholar

3 

Yao GD, Li SX, Chen DL, Feng HQ, Zhao SB, Liu YJ, Guo LL, Yang ZM, Zhang XF, Sun CX, et al: Combination of hearing screening and genetic screening for deafness-susceptibility genes in newborns. Exp Ther Med. 7:218–222. 2014.PubMed/NCBI View Article : Google Scholar

4 

Lin FR, Yaffe K, Xia J, Xue QL, Harris TB, Purchase-Helzner E, Satterfield S, Ayonayon HN, Ferrucci L, Simonsick EM, et al: Hearing loss and cognitive decline in older adults. JAMA Intern Med. 173:293–299. 2013.PubMed/NCBI View Article : Google Scholar

5 

Lasak JM, Allen P, McVay T and Lewis D: Hearing loss: Diagnosis and management. Primary Care. 41:19–31. 2014.PubMed/NCBI View Article : Google Scholar

6 

Momi SK, Wolber LE, Fabiane SM, MacGregor AJ and Williams FM: Genetic and environmental factors in age-related hearing impairment. Twin Res Hum Genet. 18:383–392. 2015.PubMed/NCBI View Article : Google Scholar

7 

Kremer H: Hereditary hearing loss; about the known and the unknown. Hear Res. 376:58–68. 2019.PubMed/NCBI View Article : Google Scholar

8 

Vona B, Müller M, Dofek S, Holderried M, Löwenheim H and Tropitzsch A: A big data perspective on the genomics of hearing loss. Laryngorhinootologie. 98 (Suppl 1):S32–S81. 2019.PubMed/NCBI View Article : Google Scholar : (In English, German).

9 

Petersen M and Willems P: Non-syndromic, autosomal-recessive deafness. Clin Genet. 69:371–392. 2006.PubMed/NCBI View Article : Google Scholar

10 

Robertson NG, Lu L, Heller S, Merchant SN, Eavey RD, McKenna M, Nadol JB Jr, Miyamoto RT, Linthicum FH Jr, Lubianca Neto JF, et al: Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. Nat Genet. 20:299–303. 1998.PubMed/NCBI View Article : Google Scholar

11 

Khetarpal U: DFNA9 is a progressive audiovestibular dysfunction with a microfibrillar deposit in the inner ear. Laryngoscope. 110:1379–1384. 2000.PubMed/NCBI View Article : Google Scholar

12 

JanssensdeVarebeke S, Topsakal V, Van Camp G and Van Rompaey V: A systematic review of hearing and vestibular function in carriers of the Pro51Ser mutation in the COCH gene. Eur Arch Otorhinolaryngol. 276:1251–1262. 2019.PubMed/NCBI View Article : Google Scholar

13 

Ku C, Cooper DN, Iacopetta B and Roukos DH: Integrating next-generation sequencing into the diagnostic testing of inherited cancer predisposition. Clin Genet. 83:2–6. 2013.PubMed/NCBI View Article : Google Scholar

14 

Levy SE and Myers RM: Advancements in next-generation sequencing. Annu Rev Genomics Hum Genet. 17:95–115. 2016.PubMed/NCBI View Article : Google Scholar

15 

Boycott KM, Vanstone MR, Bulman DE and MacKenzie AE: Rare-disease genetics in the era of next-generation sequencing: Discovery to translation. Nat Rev Genet. 14:681–691. 2013.PubMed/NCBI View Article : Google Scholar

16 

Mardis ER: The impact of next-generation sequencing technology on genetics. Trends Genet. 24:133–141. 2008.PubMed/NCBI View Article : Google Scholar

17 

Vona B, Müller T, Nanda I, Neuner C, Hofrichter MA, Schröder J, Bartsch O, Läßig A, Keilmann A, Schraven S, et al: Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations. Genet Med. 16:945–953. 2014.PubMed/NCBI View Article : Google Scholar

18 

Yang T, Wei X, Chai Y, Li L and Wu H: Genetic etiology study of the non-syndromic deafness in Chinese Hans by targeted next-generation sequencing. Orphanet J Rare Dis. 8(85)2013.PubMed/NCBI View Article : Google Scholar

19 

Alford RL, Arnos KS, Fox M, Lin JW, Palmer CG, Pandya A, Rehm HL, Robin NH, Scott DA, Yoshinaga-Itano C, et al: American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss. Genet Med. 16:347–355. 2014.PubMed/NCBI View Article : Google Scholar

20 

Mehraei G, Gallardo AP, Shinn-Cunningham BG and Dau T: Auditory brainstem response latency in forward masking, a marker of sensory deficits in listeners with normal hearing thresholds. Hear Res. 346:34–44. 2017.PubMed/NCBI View Article : Google Scholar

21 

Yan D, Xiang G, Chai X, Qing J, Shang H, Zou B, Mittal R, Shen J, Smith RJ, Fan YS, et al: Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach. PLoS One. 12(e0169219)2017.PubMed/NCBI View Article : Google Scholar

22 

Nance WE: The genetics of deafness. Ment Retard Dev Disabil Res Rev. 9:109–119. 2003.PubMed/NCBI View Article : Google Scholar

23 

DiStefano MT, Hemphill SE, Oza AM, Siegert RK, Grant AR, Hughes MY, Cushman BJ, Azaiez H, Booth KT, Chapin A, et al: ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs. Genet Med. 21:2239–2247. 2019.PubMed/NCBI View Article : Google Scholar

24 

de Kok YJ, Bom SJ, Brunt TM, Kemperman MH, van Beusekom E, van der Velde-Visser SD, Robertson NG, Morton CC, Huygen PL, Verhagen WI, et al: A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. Hum Mol Genet. 8:361–366. 1999.PubMed/NCBI View Article : Google Scholar

25 

Kemperman MH, Bom SJ, Lemaire FX, Verhagen WI, Huygen PL and Cremers CW: DFNA9/COCH and its phenotype. Nat Genet. 61:66–72. 2002.PubMed/NCBI View Article : Google Scholar

26 

Shearer AE, DeLuca AP, Hildebrand MS, Taylor KR, Gurrola J II, Scherer S, Scheetz TE and Smith RJ: Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci USA. 107:21104–21109. 2010.PubMed/NCBI View Article : Google Scholar

27 

Hilgert N, Smith RJ and Camp GV: Function and expression pattern of nonsyndromic deafness genes. Curr Mol Med. 9:546–564. 2009.PubMed/NCBI View Article : Google Scholar

28 

Abe S, Yamaguchi T and Usami SI: Application of deafness diagnostic screening panel based on deafness mutation/gene database using invader assay. Genet Test. 11:333–340. 2007.PubMed/NCBI View Article : Google Scholar

29 

Fang Y, Gu MS, Suo F, Wang CX, Liu XH and Liu FM: Application of gene detection technique in the antenatal diagnosis of hereditary hearing loss. Eur Rev Med Pharmacol Sci. 21:1452–1455. 2017.PubMed/NCBI

30 

He X, Li X, Guo Y, Zhao Y, Dong H, Dong J, Zhong L, Shi Z, Zhang Y, Soliman M, et al: Newborn screening of genetic mutations in common deafness genes with bloodspot-based gene chip array. Am J Audiol. 27:57–66. 2018.PubMed/NCBI View Article : Google Scholar

31 

Atik T, Bademci G, Diaz-Horta O, Blanton SH and Tekin M: Whole-exome sequencing and its impact in hereditary hearing loss. Genet Res (Camb). 97(e4)2015.PubMed/NCBI View Article : Google Scholar

32 

Margulies M, Egholm M, Altman WE, Attiya S, Bader JS, Bemben LA, Berka J, Braverman MS, Chen YJ, Chen Z, et al: Genome sequencing in microfabricated high-density picolitre reactors. Nature. 437:376–380. 2005.PubMed/NCBI View Article : Google Scholar

33 

Schrauwen I, Hasin-Brumshtein Y, Corneveaux JJ, Ohmen J, White C, Allen AN, Lusis AJ, Van Camp G, Huentelman MJ and Friedman RA: A comprehensive catalogue of the coding and non-coding transcripts of the human inner ear. Hear Res. 333:266–274. 2016.PubMed/NCBI View Article : Google Scholar

34 

Usami S, Takumi Y, Suzuki N, Oguchi T, Oshima A, Suzuki H, Kitoh R, Abe S, Sasaki A and Matsubara A: The localization of proteins encoded by CRYM, KIAA1199, UBA52, COL9A3, and COL9A1, genes highly expressed in the cochlea. Neuroscience. 154:22–28. 2008.PubMed/NCBI View Article : Google Scholar

35 

Suzuki S, Mori JI and Hashizume K: Mu-crystallin, a NADPH-dependent T(3)-binding protein in cytosol. Trends Endocrinol Metab. 18:286–289. 2007.PubMed/NCBI View Article : Google Scholar

36 

Hommyo R, Suzuki SO, Abolhassani N, Hamasaki H, Shijo M, Maeda N, Honda H, Nakabeppu Y and Iwaki T: Expression of CRYM in different rat organs during development and its decreased expression in degenerating pyramidal tracts in amyotrophic lateral sclerosis. Neuropathology. 38:247–259. 2018.PubMed/NCBI View Article : Google Scholar

37 

Suzuki S, Nishio SI, Ishii H, Sekido T, Takeshige K, Ohkubo Y, Hiwatashi D, Takeda T and Komatsu M: Possible roles of the AP-1 site in the cytosolic T3 binding protein promoter and insights into its physiological significance. Horm Metab Res. 45:501–506. 2013.PubMed/NCBI View Article : Google Scholar

38 

Hallen A, Cooper AJ, Smith JR, Jamie JF and Karuso P: Ketimine reductase/CRYM catalyzes reductive alkylamination of α-keto acids, confirming its function as an imine reductase. Amino Acids. 47:2457–2461. 2015.PubMed/NCBI View Article : Google Scholar

39 

Malinowska K, Cavarretta IT, Susani M, Wrulich OA, Uberall F, Kenner L and Culig Z: Identification of mu-crystallin as an androgen-regulated gene in human prostate cancer. Prostate. 69:1109–1118. 2009.PubMed/NCBI View Article : Google Scholar

40 

Oshima A, Suzuki S, Takumi Y, Hashizume K, Abe S and Usami S: CRYM mutations cause deafness through thyroid hormone binding properties in the fibrocytes of the cochlea. J Med Genet. 43(e25)2006.PubMed/NCBI View Article : Google Scholar

41 

Griffith AJ, Szymko YM, Kaneshige M, Quiñónez RE, Kaneshige K, Heintz KA, Mastroianni MA, Kelley MW and Cheng SY: Knock-in mouse model for resistance to thyroid hormone (RTH): An RTH mutation in the thyroid hormone receptor beta gene disrupts cochlear morphogenesis. J Assoc Res Otolaryngol. 3:279–288. 2002.PubMed/NCBI View Article : Google Scholar

42 

Wistow G: Lens crystallins: Gene recruitment and evolutionary dynamism. Trends Biochem Sci. 18:301–306. 1993.PubMed/NCBI View Article : Google Scholar

43 

Abe S, Katagiri T, Saito-Hisaminato A, Usami S, Inoue Y, Tsunoda T and Nakamura Y: Identification of CRYM as a candidate responsible for nonsyndromic deafness, through cDNA microarray analysis of human cochlear and vestibular tissues. Am J Hum Genet. 72:73–82. 2003.PubMed/NCBI View Article : Google Scholar

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Wang M, Li Q, Deng A, Zhu X and Yang J: Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole‑exome sequencing. Exp Ther Med 20: 1447-1454, 2020.
APA
Wang, M., Li, Q., Deng, A., Zhu, X., & Yang, J. (2020). Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole‑exome sequencing. Experimental and Therapeutic Medicine, 20, 1447-1454. https://doi.org/10.3892/etm.2020.8890
MLA
Wang, M., Li, Q., Deng, A., Zhu, X., Yang, J."Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole‑exome sequencing". Experimental and Therapeutic Medicine 20.2 (2020): 1447-1454.
Chicago
Wang, M., Li, Q., Deng, A., Zhu, X., Yang, J."Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole‑exome sequencing". Experimental and Therapeutic Medicine 20, no. 2 (2020): 1447-1454. https://doi.org/10.3892/etm.2020.8890
Copy and paste a formatted citation
x
Spandidos Publications style
Wang M, Li Q, Deng A, Zhu X and Yang J: Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole‑exome sequencing. Exp Ther Med 20: 1447-1454, 2020.
APA
Wang, M., Li, Q., Deng, A., Zhu, X., & Yang, J. (2020). Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole‑exome sequencing. Experimental and Therapeutic Medicine, 20, 1447-1454. https://doi.org/10.3892/etm.2020.8890
MLA
Wang, M., Li, Q., Deng, A., Zhu, X., Yang, J."Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole‑exome sequencing". Experimental and Therapeutic Medicine 20.2 (2020): 1447-1454.
Chicago
Wang, M., Li, Q., Deng, A., Zhu, X., Yang, J."Identification of a novel mutation in CRYM in a Chinese family with hearing loss using whole‑exome sequencing". Experimental and Therapeutic Medicine 20, no. 2 (2020): 1447-1454. https://doi.org/10.3892/etm.2020.8890
Follow us
  • Twitter
  • LinkedIn
  • Facebook
About
  • Spandidos Publications
  • Careers
  • Cookie Policy
  • Privacy Policy
How can we help?
  • Help
  • Live Chat
  • Contact
  • Email to our Support Team