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Article

Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons.

American journal of medical genetics - 11 Sept 2000

Wilkin D J, Liberfarb R, Davis J, Levy H P, Cole W G, Francomano C A, Cohn D H

Abstract excerpt

Stickler syndrome is one of the milder phenotypes resulting from mutations in the gene that encodes type-II collagen, COL2A1. All COL2A1 mutations known to cause Stickler syndrome result in the formation of a premature termination codon within the type-II collagen gene. COL2A1 has 10 in-frame CGA codons, which can mutate to TGA STOP codons via a methylation-deamination mechanism. We have analyzed these sites in...

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Source

Identifiers

PMID: 10982970
DOI: 10.1002/1096-8628(20000911)94:2<141::aid-ajmg6>3.0.co;2-a

Genes

CGA

Provenance

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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Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codons.PMID 10982970Read ↗

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