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Article

Molecular genetics of the COL2A1-related disorders.

Mutation research. Reviews in mutation research - 1 Jan 2000

Deng Hao, Huang Xiangjun, Yuan Lamei

Abstract excerpt

Type II collagen, comprised of three identical alpha-1(II) chains, is the major collagen synthesized by chondrocytes, and is found in articular cartilage, vitreous humour, inner ear and nucleus pulposus. Mutations in the collagen type II alpha-1 gene (COL2A1) have been reported to be responsible for a series of abnormalities, known as type II collagenopathies. To date, 16 definite disorders, inherited in an...

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PMID: 27234559
DOI: 10.1016/j.mrrev.2016.02.003

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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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