论文部分内容阅读
伴淀粉样变性遗传性脑出血(荷兰型)(HCHWA[-D])是一种罕见的常染色体显性遗传病,由染色体21淀粉样前体蛋白基因693单一碱基突变引起,表现为痴呆与卒中的反复发作。作者对HCHWA[-D]症状发生前突变基因携带者进行研究,目的在于探讨HCHWA[-D]病人先于痴呆和卒中的早期表现。 10例症状发生前的淀粉样前体蛋白位点突变基因
Hepatitis A with amyloidosis (Dutch type) (HCHWA [-D]) is a rare autosomal dominant disease caused by a single base mutation in the 693 amyloid precursor protein gene of chromosome 21, which manifests as dementia And recurrent stroke. The authors conducted a study of carriers of mutated genes prior to HCHWA [-D] symptoms in order to investigate the early manifestation of HCHWA [-D] in patients prior to dementia and stroke. Ten cases of presymptomatic amyloid precursor protein site mutation gene