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携带新的NOTCH3基因突变的CADASIL一家系报道

Novel mutation of NOTCH3 gene in a pedigree with cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy
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摘要 常染色体显性遗传合并皮质下梗死和白质脑病(cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy, CADASIL)是一种进展性的脑小血管疾病.主要表现为偏头痛,脯卒中和脑白质病变,一些患者还有认知障碍。
作者 陈璇 邓艳春
出处 《中华神经医学杂志》 CSCD 北大核心 2017年第7期738-739,共2页 Chinese Journal of Neuromedicine
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