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Article

Col4a1 mutation in mice causes defects in vascular function and low blood pressure associated with reduced red blood cell volume.

Human molecular genetics - 15 Mar 2010

Van Agtmael Tom, Bailey Matthew A, Schlötzer-Schrehardt Ursula, Craigie Eilidh, Jackson Ian J, Brownstein David G, Megson Ian L, Mullins John J

Abstract excerpt

Collagen type IV is the major structural component of the basement membrane and COL4A1 mutations cause adult small vessel disease, familial porencephaly and hereditary angiopathy with nephropathy aneurysm and cramps (HANAC) syndrome. Here, we show that animals with a Col4a1 missense mutation (Col4a1(+/Raw)) display focal detachment of the endothelium from the media and age-dependent defects in vascular function...

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Identifiers

PMID: 20056676
DOI: 10.1093/hmg/ddp584
PMCID: PMC3199583

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