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
Molecular Medicine Reports
Join Editorial Board Propose a Special Issue
Print ISSN: 1791-2997 Online ISSN: 1791-3004
Journal Cover
December-2016 Volume 14 Issue 6

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
December-2016 Volume 14 Issue 6

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
Article

SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency

  • Authors:
    • Han‑Shi Zeng
    • Wei‑Xia Lin
    • Shu‑Tao Zhao
    • Zhan‑Hui Zhang
    • Heng‑Wen Yang
    • Feng‑Ping Chen
    • Yuan‑Zong Song
    • Zhi‑Nan Yin
  • View Affiliations / Copyright

    Affiliations: Department of Pediatrics, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong 510630, P.R. China, Core Laboratory, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong 510630, P.R. China, Biomedical Translational Research Institute, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong 510630, P.R. China, Department of Laboratory Science, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong 510630, P.R. China
  • Pages: 5189-5194
    |
    Published online on: October 21, 2016
       https://doi.org/10.3892/mmr.2016.5873
  • 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

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder resulting from biallelic mutations of the SLC25A13 gene. Due to the lack of well‑recognized clinical or biochemical diagnostic criteria, the definitive diagnosis of this disease relies on the genetic analysis of SLC25A13 at present. As novel large deletion/insertion mutations of the SLC25A13 gene are difficult to detect using routine DNA analytic approaches, the timely diagnosis of patients with these types of mutations remains a challenge. The present study aimed to examine SLC25A13 mutations in an infant with a suspected diagnosis of NICCD. DNA was extracted from blood samples, and SLC25A13 mutations were examined by screening for high‑frequency mutations and Sanger sequencing. Reverse transcription-polymerase chain reaction and cDNA cloning analyses were then performed using peripheral blood lymphocytes (PBLs) to identify the obscure mutation. The results demonstrated that the infant was heterozygous for a paternally‑inherited mutation, c.851_854del4, and a maternally‑inherited large deletion, c.1019_1177+893del, which has not been reported previously. A positive diagnosis of NICCD was made, and the infant responded favorably to a galactose‑free and medium‑chain triglyceride‑enriched formula. The present study confirmed the effectiveness of this formula in NICCD therapy, enriched the SLC25A13 mutational spectrum and supported the feasibility of cDNA cloning analysis using PBLs as a molecular tool for facilitating the identification of large SLC25A13 deletions.
View Figures

Figure 1

Figure 2

View References

1 

Saheki T and Kobayashi K: Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). J Hum Genet. 47:333–341. 2002. View Article : Google Scholar : PubMed/NCBI

2 

Kobayashi K, Saheki T and Song YZ: Citrin DeficiencyPagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle. 1993–2014, 2005 Sep 16 [updated 2014 Jul 31].

3 

Palmieri F: Mitochondrial transporters of the SLC25 family and associated diseases: A review. J Inherit Metab Dis. 37:565–575. 2014. View Article : Google Scholar : PubMed/NCBI

4 

Kobayashi K, Sinasac DS, Iijima M, Boright AP, Begum L, Lee JR, Yasuda T, Ikeda S, Hirano R, Terazono H, et al: The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein. Nat Genet. 22:159–163. 1999. View Article : Google Scholar : PubMed/NCBI

5 

Bijarnia-Mahay S, Häberle J, Rüfenacht V, Shigematsu Y, Saxena R and Verma IC: Citrin deficiency: A treatable cause of acute psychosis in adults. Neurol India. 63:220–222. 2015. View Article : Google Scholar : PubMed/NCBI

6 

Ko JM, Kim GH, Kim JH, Kim JY, Choi JH, Ushikai M, Saheki T, Kobayashi K and Yoo HW: Six cases of citrin deficiency in Korea. Int J Mol Med. 20:809–815. 2007.PubMed/NCBI

7 

Lee BH, Jin HY, Kim GH, Choi JH and Yoo HW: Nonalcoholic fatty liver disease in 2 siblings with adult-onset type ii citrullinemia. J Pediatr Gastroenterol Nutr. 50:682–685. 2010. View Article : Google Scholar : PubMed/NCBI

8 

Ngu HL, Zabedah MY and Kobayashi K: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children. Malays J Pathol. 32:53–57. 2010.PubMed/NCBI

9 

Ohura T, Kobayashi K, Tazawa Y, Abukawa D, Sakamoto O, Tsuchiya S and Saheki T: Clinical pictures of 75 patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). J Inherit Metab Dis. 30:139–144. 2007. View Article : Google Scholar : PubMed/NCBI

10 

Song YZ, Li BX, Chen FP, Liu SR, Sheng JS, Ushikai M, Zhang CH, Zhang T, Wang ZN, Kobayashi K, et al: Neonatal intrahepatic cholestasis caused by citrin deficiency: Clinical and laboratory investigation of 13 subjects in mainland of China. Dig Liver Dis. 41:683–689. 2009. View Article : Google Scholar : PubMed/NCBI

11 

Song YZ, Deng M, Chen FP, Wen F, Guo L, Cao SL, Gong J, Xu H, Jiang GY, Zhong L, et al: Genotypic and phenotypic features of citrin deficiency: Five-year experience in a Chinese pediatric center. Int J Mol Med. 28:33–40. 2011.PubMed/NCBI

12 

Song YZ, Zhang ZH, Lin WX, Zhao XJ, Deng M, Ma YL, Guo L, Chen FP, Long XL, He XL, et al: SLC25A13 gene analysis in citrin deficiency: Sixteen novel mutations in East Asian patients, and the mutation distribution in a large pediatric cohort in China. PLoS One. 8:e745442013. View Article : Google Scholar : PubMed/NCBI

13 

Thong MK, Boey CC, Sheng JS, Ushikai M and Kobayashi K: Neonatal intrahepatic cholestasis caused by citrin deficiency in two Malaysian siblings: Outcome at one year of life. Singapore Med J. 51:e12–e14. 2010.PubMed/NCBI

14 

Treepongkaruna S, Jitraruch S, Kodcharin P, Charoenpipop D, Suwannarat P, Pienvichit P, Kobayashi K and Wattanasirichaigoon D: Neonatal intrahepatic cholestasis caused by citrin deficiency: Prevalence and SLC25A13 mutations among Thai infants. BMC Gastroenterol. 12:1412012. View Article : Google Scholar : PubMed/NCBI

15 

Yeh JN, Jeng YM, Chen HL, Ni YH, Hwu WL and Chang MH: Hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants. J Pediatr. 148:642–646. 2006. View Article : Google Scholar : PubMed/NCBI

16 

Zeng HS, Zhao ST, Deng M, Zhang ZH, Cai XR, Chen FP and Song YZ: Inspissated bile syndrome in an infant with citrin deficiency and congenital anomalies of the biliary tract and esophagus: Identification and pathogenicity analysis of a novel SLC25A13 mutation with incomplete penetrance. Int J Mol Med. 34:1241–1248. 2014.PubMed/NCBI

17 

Avdseva-Tzavella DM, Ivanova MB, Todorov TP, Todorova AP, Panteleeva EI, Tincheva SS, Lazarova EA, Kathom HM, Yaneva PG and Tincheva RS: First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene. Genet Couns. 25:271–276. 2014.PubMed/NCBI

18 

Fiermonte G, Parisi G, Martinelli D, De Leonardis F, Torre G, Pierri CL, Saccari A, Lasorsa FM, Vozza A, Palmieri F and Dionisi-Vici C: A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): A clinical, molecular, and functional study. Mol Genet Metab. 104:501–506. 2011. View Article : Google Scholar : PubMed/NCBI

19 

Hutchin T, Preece MA, Hendriksz C, Chakrapani A, McClelland V, Okumura F, Song YZ, Iijima M, Kobayashi K, Saheki T, et al: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK. J Inherit Metab Dis. 32:(Suppl 1). S151–S155. 2009. View Article : Google Scholar : PubMed/NCBI

20 

Vitoria I, Dalmau J, Ribes C, Rausell D, García AM, López-Montiel J and Rubio V: Citrin deficiency in a Romanian child living in Spain highlights the worldwide distribution of this defect and illustrates the value of nutritional therapy. Mol Genet Metab. 110:181–183. 2013. View Article : Google Scholar : PubMed/NCBI

21 

Dimmock D, Kobayashi K, Iijima M, Tabata A, Wong LJ, Saheki T, Lee B and Scaglia F: Citrin deficiency: A novel cause of failure to thrive that responds to a high-protein, low-carbohydrate diet. Pediatrics. 119:e773–e777. 2007. View Article : Google Scholar : PubMed/NCBI

22 

Dimmock D, Maranda B, Dionisi-Vici C, Wang J, Kleppe S, Fiermonte G, Bai R, Hainline B, Hamosh A, O'Brien WE, et al: Citrin deficiency, a perplexing global disorder. Mol Genet Metab. 96:44–49. 2009. View Article : Google Scholar : PubMed/NCBI

23 

Ricciuto A and Buhas D: A novel citrin deficiency mutation in a cholestatic infant. J Pediatr Gastroenterol Nutr. 59:e522014. View Article : Google Scholar : PubMed/NCBI

24 

Wong LJ, Dimmock D, Geraghty MT, Quan R, Lichter-Konecki U, Wang J, Brundage EK, Scaglia F and Chinault AC: Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions. Clin Chem. 54:1141–1148. 2008. View Article : Google Scholar : PubMed/NCBI

25 

Tokuhara D, Iijima M, Tamamori A, Ohura T, Takaya J, Maisawa S, Kobayashi K, Saheki T and Yamano T: Novel diagnostic approach to citrin deficiency: Analysis of citrin protein in lymphocytes. Mol Genet Metab. 90:30–36. 2007. View Article : Google Scholar : PubMed/NCBI

26 

Tabata A, Sheng JS, Ushikai M, Song YZ, Gao HZ, Lu YB, Okumura F, Iijima M, Mutoh K, Kishida S, et al: Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency. J Hum Genet. 53:534–545. 2008. View Article : Google Scholar : PubMed/NCBI

27 

Zhang ZH, Lin WX, Deng M, Zhao XJ and Song YZ: Molecular analysis of SLC25A13 gene in human peripheral blood lymphocytes: Marked transcript diversity, and the feasibility of cDNA cloning as a diagnostic tool for citrin deficiency. Gene. 511:227–234. 2012. View Article : Google Scholar : PubMed/NCBI

28 

Kimura A, Kage M, Nagata I, Mushiake S, Ohura T, Tazawa Y, Maisawa S, Tomomasa T, Abukawa D, Okano Y, et al: Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency. Hepatol Res. 40:295–303. 2010. View Article : Google Scholar : PubMed/NCBI

29 

Hayasaka K, Numakura C, Toyota K and Kimura T: Treatment with lactose (galactose)-restricted and medium-chain triglyceride-supplemented formula for neonatal intrahepatic cholestasis caused by citrin deficiency. JIMD Rep. 2:37–44. 2012. View Article : Google Scholar : PubMed/NCBI

30 

Zhang ZH, Lin WX, Deng M, Zhao ST, Zeng HS, Chen FP and Song YZ: Clinical, molecular and functional investigation on an infant with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). PLoS One. 9:e892672014. View Article : Google Scholar : PubMed/NCBI

31 

Hayasaka K, Numakura C and Watanabe H: Treatment and pathomechanism of citrin deficiency. Brain Nerve. 67:739–747. 2015.(In Japanese). PubMed/NCBI

Related Articles

  • Abstract
  • View
  • Download
  • Twitter
Copy and paste a formatted citation
Spandidos Publications style
Zeng HS, Lin WX, Zhao ST, Zhang ZH, Yang HW, Chen FP, Song YZ and Yin ZN: SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency. Mol Med Rep 14: 5189-5194, 2016.
APA
Zeng, H., Lin, W., Zhao, S., Zhang, Z., Yang, H., Chen, F. ... Yin, Z. (2016). SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency. Molecular Medicine Reports, 14, 5189-5194. https://doi.org/10.3892/mmr.2016.5873
MLA
Zeng, H., Lin, W., Zhao, S., Zhang, Z., Yang, H., Chen, F., Song, Y., Yin, Z."SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency". Molecular Medicine Reports 14.6 (2016): 5189-5194.
Chicago
Zeng, H., Lin, W., Zhao, S., Zhang, Z., Yang, H., Chen, F., Song, Y., Yin, Z."SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency". Molecular Medicine Reports 14, no. 6 (2016): 5189-5194. https://doi.org/10.3892/mmr.2016.5873
Copy and paste a formatted citation
x
Spandidos Publications style
Zeng HS, Lin WX, Zhao ST, Zhang ZH, Yang HW, Chen FP, Song YZ and Yin ZN: SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency. Mol Med Rep 14: 5189-5194, 2016.
APA
Zeng, H., Lin, W., Zhao, S., Zhang, Z., Yang, H., Chen, F. ... Yin, Z. (2016). SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency. Molecular Medicine Reports, 14, 5189-5194. https://doi.org/10.3892/mmr.2016.5873
MLA
Zeng, H., Lin, W., Zhao, S., Zhang, Z., Yang, H., Chen, F., Song, Y., Yin, Z."SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency". Molecular Medicine Reports 14.6 (2016): 5189-5194.
Chicago
Zeng, H., Lin, W., Zhao, S., Zhang, Z., Yang, H., Chen, F., Song, Y., Yin, Z."SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency". Molecular Medicine Reports 14, no. 6 (2016): 5189-5194. https://doi.org/10.3892/mmr.2016.5873
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