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Mutations in KRIT1 in Familial Cerebral Cavernous Malformations

1 May 2000

Abstract excerpt

OBJECTIVES: The recognition of six unrelated Hispanic-American families in which cerebral cavernous malformations (CCM) segregated as an autosomal dominant trait established a genetic basis for this disease. Linkage analysis subsequently identified locus heterogeneity with disease genes for CCM at chromosomal regions 7q, 7p, and 3q. Recently, mutations in KRIT1, a gene on 7q at the CCM1 locus, were identified in...

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PMID: 10807272
DOI: 10.1097/00006123-200005000-00064

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Mutations in KRIT1 in Familial Cerebral Cavernous MalformationsPMID 10807272Read ↗

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