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A novel cysteine-sparing G73A mutation of NOTCH3 in a Chinese CADASIL family
Authors:Huang  Liyan  Li  Wei  Li  Yi  Song  Chaoyuan  Wang  Pin  Wang  Hongchun  Sun  Xiulian
Affiliation:1.Department of Neurology, Qilu Hospital of Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong Province, China
;2.Brain Research Institute, Qilu Hospital of Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong Province, China
;3.Department of Neurology, Qingdao Municipal Hospital, No.1 Jiaozhou Rd, Qingdao, 266011, Shandong Province, China
;4.Otolarygology Key Lab of National Health Committee, Qilu Hospital of Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong Province, China
;5.Department of Neurology, Secondary Hospital of Shandong University, No. 247 Beiyuanda St, Jinan, 250010, Shandong Province, China
;6.Department of Clinical Laboratory, Qilu Hospital of Shandong University, No. 107 West Wenhua Road, Jinan, 250012, Shandong Province, China
;
Abstract:neurogenetics - Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic disease leading to stroke and vascular dementia....
Keywords:
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