Article
Identification of two novel mutations and of a novel critical region in the KRIT1 gene.
Neurogenetics - 1 Jan 2007
Guarnieri Vito, Muscarella Lucia A, Amoroso Rosina, Quattrone Alessandro, Abate Massimo E, Coco Michelina, Catapano Domenico, D'Angelo Vincenzo A, Zelante Leopoldo, D'Agruma Leonardo
Abstract excerpt
Cerebral cavernous malformations (CCMs) represent a common autosomal dominant disorder that predisposes patients to hemorrhagic strokes and focal neurological signs. Mutations in three genes (KRIT1, MGC4607, and PDCD10) have been associated with CCMs. We investigated the role of two new mutations in the KRIT1 gene in two Italian families affected by CCMs. Whole blood DNA was extracted and the mutations were...
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