在1个意大利CADASIL患病家族中发现1种未累及半胱氨酸残基的新型Notch3基因突变
A novel Notch 3 gene mutation not involving a cysteine residue in an Italian family with CADASIL作者机构：Department of Neurology Cattedra e U.O. di Neurologia Policlinico Materdomini Via T. Campanella 88100 Catanzaro Italy Dr.
出 版 物：《世界核心医学期刊文摘（神经病学分册）》 (Digest of the World Core Medical Journals:Clinical Neurology)
年 卷 期：2005年第1卷第1期
页 面：58-58页
学科分类：1002[医学-临床医学] 100205[医学-精神病与精神卫生学] 10[医学]
主 题：Notch 基因突变 CADASIL 半胱氨酸残基 脑动脉 脑白质病 表皮生长因子 神经元缺失 核苷酸置换 常染色体
摘 要：Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disease leading to accumulating neurologic deficits and dementia. CADASIL has been linked to nucleotide substitutions and deletions in the Notch3 gene. All the mutations described until now lead to unpaired cysteine residue in the epidermal growth factor like repeats. The authors report a family with CADASIL carrying a deletion in the Notch3 gene that did not involve a cysteine residue.
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