Mutations in <i>Col4a1</i> Cause Perinatal Cerebral Hemorrhage and Porencephaly

B. Gould, Douglas; Campbell Phalan, F.; J. Breedveld, Guido; E. van Mil, Saskia; S. Smith, Richard; C. Schimenti, John; Aguglia, Umberto; S. van der Knaap, Marjo; Heutink, Peter; W. M. John, Simon

doi:10.1126/science.1109418

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Mutations in Col4a1 Cause Perinatal Cerebral Hemorrhage and Porencephaly

Published in Science • May 19, 2005

Authors:

Douglas B. Gould

F. Campbell Phalan

Guido J. Breedveld

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...

Subject

Porencephaly

Mutant

Mutation

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