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Oncology Reports
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Print ISSN: 1021-335X Online ISSN: 1791-2431
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July-August 2003 Volume 10 Issue 4

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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.

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Article

Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia

  • Authors:
    • Hiroaki Nakayama
    • Yuichi Endo
    • Shigeo Aota
    • Masato Sato
    • Teizo Fujita
    • Shin-Ichi Kikuchi

  • View Affiliations / Copyright

    Affiliations: Department of Orthopedic Surgery, Fukushima Medical University School of Medicine, Fukushima 960-1295, Japan
  • Pages: 871-873
    |
    Published online on: July 1, 2003
       https://doi.org/10.3892/or.10.4.871
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Abstract

Mutations in the cartilage oligomeric matrix protein (COMP) gene cause two skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), which are autosomal dominant disorders characterized by short-limb dwarfism. We report novel mutations of the COMP gene identified in two sporadic Japanese cases of PSACH. One had a novel single base substitution in exon 9, resulting in a missense mutation of Gly309Arg in the second type 3 repeat of COMP protein. The other patient had no mutations in any of the exonic sequences of the gene, but she did have a novel base substitution in intron 13. Although this mutation was not located in the conserved sequences for splicing donor and acceptor sites, it might disturb the precise splicing of the COMP transcripts, resulting in the production of abnormal protein with defective last type 3 repeat and/or C-terminal domain.

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Copy and paste a formatted citation
Spandidos Publications style
Nakayama H, Endo Y, Aota S, Sato M, Fujita T and Kikuchi S: Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia. Oncol Rep 10: 871-873, 2003.
APA
Nakayama, H., Endo, Y., Aota, S., Sato, M., Fujita, T., & Kikuchi, S. (2003). Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia. Oncology Reports, 10, 871-873. https://doi.org/10.3892/or.10.4.871
MLA
Nakayama, H., Endo, Y., Aota, S., Sato, M., Fujita, T., Kikuchi, S."Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia". Oncology Reports 10.4 (2003): 871-873.
Chicago
Nakayama, H., Endo, Y., Aota, S., Sato, M., Fujita, T., Kikuchi, S."Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia". Oncology Reports 10, no. 4 (2003): 871-873. https://doi.org/10.3892/or.10.4.871
Copy and paste a formatted citation
x
Spandidos Publications style
Nakayama H, Endo Y, Aota S, Sato M, Fujita T and Kikuchi S: Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia. Oncol Rep 10: 871-873, 2003.
APA
Nakayama, H., Endo, Y., Aota, S., Sato, M., Fujita, T., & Kikuchi, S. (2003). Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia. Oncology Reports, 10, 871-873. https://doi.org/10.3892/or.10.4.871
MLA
Nakayama, H., Endo, Y., Aota, S., Sato, M., Fujita, T., Kikuchi, S."Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia". Oncology Reports 10.4 (2003): 871-873.
Chicago
Nakayama, H., Endo, Y., Aota, S., Sato, M., Fujita, T., Kikuchi, S."Novel mutations of the cartilage oligomeric matrix protein (COMP) gene in two Japanese patients with pseudoachondroplasia". Oncology Reports 10, no. 4 (2003): 871-873. https://doi.org/10.3892/or.10.4.871
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