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Article

HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect.

The American journal of pathology - 1 Mar 2017

Guiraud Simon, Migeon Tiffany, Ferry Arnaud, Chen Zhiyong, Ouchelouche Souhila, Verpont Marie-Christine, Sado Yoshikazu, Allamand Valérie, Ronco Pierre, Plaisier Emmanuelle

Abstract excerpt

Collagen IV is a major component of basement membranes (BMs). The α1(IV) chain, encoded by the COL4A1 gene, is expressed ubiquitously and associates with the α2(IV) chain to form the α1α1α2(IV) heterotrimer. Several COL4A1 mutations affecting a conformational domain containing integrin-binding sites are responsible for the systemic syndrome of hereditary angiopathy, nephropathy, aneurysms, and cramps (HANAC). To...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28056338
DOI: 10.1016/j.ajpath.2016.10.020
PMCID: PMC5389361

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HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect.PMID 28056338Read ↗

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COL4A1 Mutations Cause Neuromuscular Disease with Tissue-Specific Mechanistic Heterogeneity.Semantic proximity Read ↗

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