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Article

Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations.

Human molecular genetics - 1 Apr 2014

Kuo Debbie S, Labelle-Dumais Cassandre, Mao Mao, Jeanne Marion, Kauffman William B, Allen Jennifer, Favor Jack, Gould Douglas B

Abstract excerpt

Collagen type IV alpha 1 and 2 (COL4A1 and COL4A2) are present in nearly all basement membranes. COL4A1 and COL4A2 mutations are pleiotropic, affecting multiple organ systems to differing degrees, and both genetic-context and environmental factors influence this variable expressivity. Here, we report important phenotypic and molecular differences in an allelic series of Col4a1 and Col4a2 mutant mice that are on a...

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Identifiers

PMID: 24203695
DOI: 10.1093/hmg/ddt560
PMCID: PMC3943517

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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