Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

DB, Gould; FC, Phalan; GJ, Breedveld; Mil SE, van; RS, Smith; JC, Schimenti; U, Aguglia; der Knaap MS, van; P, Heutink; SW, John

doi:10.1126/science.1109418

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Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly.

Shared by NobleBlocks on May 1, 2005 • 12:00 AM UTC

Authors:

Gould DB

Phalan FC

Breedveld GJ

Abstract

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...

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