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Article

Genotype-phenotype correlations in pathology caused by collagen type IV alpha 1 and 2 mutations.

Matrix biology : journal of the International Society for Matrix Biology - 1 Jan 2017

Jeanne Marion, Gould Douglas B

Abstract excerpt

COL4A1 and COL4A2 are extracellular matrix proteins that form heterotrimers and are present in nearly all basement membranes in every organ. In the past decade, COL4A1 and COL4A2 mutations have been identified to cause a multi-system disorder for which penetrance and severity of constituent phenotypes can greatly vary. Here, we compare the outcomes of more than 100 mutations identified in patients and data from a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27794444
DOI: 10.1016/j.matbio.2016.10.003
PMCID: PMC5328961

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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