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- Title
Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients.
- Authors
Joutel, A; Vahedi, K; Corpechot, C; Troesch, A; Chabriat, H; Vayssière, C; Cruaud, C; Maciazek, J; Weissenbach, J; Bousser, M G; Bach, J F; Tournier-Lasserve, E
- Abstract
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy) is commonly overlooked or misdiagnosed owing to its recent identification and its variable mode of presentation. The defective gene in CADASIL is Notch3, which encodes a large transmembrane receptor. To set up a diagnostic test and to delineate the Notch3 domains involved in CADASIL., we undertook mutations analysis in this gene in a group of CADASIL patients.
- Publication
Lancet (London, England), 1997, Vol 350, Issue 9090, p1511
- ISSN
0140-6736
- Publication type
Journal Article
- DOI
10.1016/S0140-6736(97)08083-5