Identification of two novel mutations and of a novel critical region in the KRIT1 gene


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… (More)
DOI: 10.1007/s10048-006-0056-y


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