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Novel mutations in three families confirm a major role of <i>COL4A1</i> in hereditary porencephaly

17 Aug 2005

Abstract excerpt

BACKGROUND: Porencephaly (cystic cavities of the brain) is caused by perinatal vascular accidents from various causes. Several familial cases have been described and autosomal dominant inheritance linked to chromosome 13q has been suggested. COL4A1 is an essential component in basal membrane stability. Mouse mutants bearing an in-frame deletion of exon 40 of Col4a1 either die from haemorrhage in the perinatal...

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PMID: 16107487
DOI: 10.1136/jmg.2005.035584

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Novel mutations in three families confirm a major role of <i>COL4A1</i> in hereditary porencephalyPMID 16107487Read ↗

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