Article
Characteristics of CADASIL in Korea: a novel cysteine-sparing Notch3 mutation.
Neurology - 23 May 2006
Kim Y, Choi E J, Choi C G, Kim G, Choi J H, Yoo H W, Kim J S
Abstract excerpt
OBJECTIVE: To elucidate the phenotype, genotype, and MRI findings of Korean patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and mutation carriers. METHODS: The authors studied 40 members of nine unrelated Korean CADASIL families. After genetic analysis of Notch3, clinical and MRI findings were correlated in 27 mutation carriers. RESULT: Notch3...
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