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Article

Identification of a novel COL2A1 mutation (c.1744G>A) in a Japanese family: a case report.

Journal of medical case reports - 14 Aug 2014

Kishiya Masaki, Nakamura Yoshihide, Ohishi Hirotaka, Furukawa Ken-Ichi, Ishibashi Yasuyuki

Abstract excerpt

INTRODUCTION: Mutations in the gene encoding the type II collagen gene (COL2A1) have been found to affect the entire skeletal system. Recently, inheritable skeletal dysplasia caused by novel COL2A1 mutations has been linked to an inherited disease of the hip joint that neither involves the entire skeletal system nor is characterized by the presence of concomitant disorders, such as spinal or ocular abnormalities....

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Identifiers

PMID: 25124518
DOI: 10.1186/1752-1947-8-276
PMCID: PMC4150419

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of a novel COL2A1 mutation (c.1744G>A) in a Japanese family: a case report.PMID 25124518Read ↗

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