Article
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.
Science (New York, N.Y.) - 20 May 2005
Gould Douglas B, Phalan F Campbell, Breedveld Guido J, van Mil Saskia E, Smith Richard S, Schimenti John C, Aguglia Umberto, van der Knaap Marjo S, Heutink Peter, John Simon W M
Abstract excerpt
Porencephaly is a rare neurological disease, typically manifest in infants, which is characterized by the existence of degenerative cavities in the brain. To investigate the molecular pathogenesis of porencephaly, we studied a mouse mutant that develops porencephaly secondary to focal disruptions of vascular basement membranes. Half of the mutant mice died with cerebral hemorrhage within a day of birth, and...
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