Molecular genetics of the COL2A1-related disorders.

doi:10.1016/j.mrrev.2016.02.003

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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...

Topics

Animals
Collagen Type II
Disease Models, Animal
Genes, Dominant
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Mutation
Phenotype

Source

Open in PubMed

Identifiers

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

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