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CASE REPORTS
JOURNAL ARTICLE
First Report of Arg587Cys Mutation of Notch3 Gene in Two Chinese Families with CADASIL.
Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association 2017 January
OBJECTIVE: To explore Notch3 mutation sites of Chinese patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).
METHODS: Direct sequencing of all exons in Notch3 gene was performed on 12 unrelated suspected CADASIL cases from mainland China.
RESULT: A missense p.Arg587Cys (1759C>T) mutation in exon 11 was identified in 2 patients through genetic analysis.
CONCLUSION: Chinese patients with CADASIL of R587C mutation in exon 11 was firstly reported.
METHODS: Direct sequencing of all exons in Notch3 gene was performed on 12 unrelated suspected CADASIL cases from mainland China.
RESULT: A missense p.Arg587Cys (1759C>T) mutation in exon 11 was identified in 2 patients through genetic analysis.
CONCLUSION: Chinese patients with CADASIL of R587C mutation in exon 11 was firstly reported.
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