First Report of Arg587Cys Mutation of Notch3 Gene in Two Chinese Families with CADASIL
| Autor: | Gui-fu Li, Foming Zhang, Jinsong You, Shaojun Liao, Zhaohui Ma |
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| Rok vydání: | 2016 |
| Předmět: |
Male
Pathology medicine.medical_specialty China Mutation Missense CADASIL Genetic analysis Leukoencephalopathy 03 medical and health sciences Exon 0302 clinical medicine Asian People medicine Missense mutation Humans Family 030212 general & internal medicine Gene Receptor Notch3 Direct sequencing business.industry Rehabilitation Brain Exons Middle Aged medicine.disease Mutation (genetic algorithm) Surgery Female Neurology (clinical) Cardiology and Cardiovascular Medicine business 030217 neurology & neurosurgery |
| Zdroj: | Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association. 26(1) |
| ISSN: | 1532-8511 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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