Article
Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus.
Human mutation - 1 Jan 2006
Liquori Christina L, Berg Michel J, Squitieri Ferdinando, Ottenbacher Monica, Sorlie Marielle, Leedom Tracey P, Cannella Milena, Maglione Vittorio, Ptacek Louis, Johnson Eric W, Marchuk Douglas A
Abstract excerpt
Cerebral cavernous malformations (CCMs) are vascular abnormalities of the brain that can result in a variety of neurological disabilities, including stroke and seizures. Linkage analyses using autosomal dominant families manifesting CCMs have identified three different causative loci on chromosomes 7q21.2 (CCM1), 7p13 (CCM2), and 3q25.2-q27 (CCM3). Mutations in the gene Krit1 are responsible for CCM1, mutations...
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