Article

Investigating the mechanisms and modifiers of disease resulting from mutations in COL4A1 and COL4A2

2019-01-01

Abstract excerpt

Haemorrhagic stroke accounts for 15% of adult stroke. Mutations within COL4A1 and COL4A2 (collagen IV alpha chain 1/2) cause familial forms of cerebrovascular disease, including intracerebral haemorrhage (ICH). Collagen IV is a major component of the basement membrane and provides structural support within blood vessel walls. Cerebrovascular disease caused by mutations inCOL4A1/COL4A2 exhibit reduced penetrance, i...

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Literature Corpus work: 0531f2e7-835b-5be4-8e23-12c2a1385ae3
DOI: 10.5525/gla.thesis.41043

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