Article
A novel mutation (C271F) in the Notch3 gene in a Chinese man with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
Clinica chimica acta; international journal of clinical chemistry - 1 Feb 2007
Au Kam-Ming, Li Ho-Lun, Sheng Bun, Chow Tat-Chong, Chen Mo-Lung, Lee Kam-Cheong, Chan Albert Yan-Wo
Abstract excerpt
BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult-onset hereditary condition caused by mutations in the Notch3 gene. A Chinese man was studied. METHOD: Electronic microscopy examination of skin biopsy. The Notch3 gene was screened for mutations by polymerase chain reaction and direct DNA sequencing. RESULTS: Electronic microscopy showed...
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