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体细胞突变在常染色体显性多囊肾发病中作用的研究进展

发布时间:2018-08-11 14:50
【摘要】:正常染色体显性多囊肾(autosomal dominant polycystic kidney disease,ADPKD)是一种遗传性单基因疾病,由多囊肾基因1(polycyseic kidneydisease gene,PKD1)、PKD2基因突变所致,称Ⅰ型ADPKD,Ⅱ型ADPKD。其发病率很高,1/1 000~1/400,为常见肾脏遗传病[1-2]。一般成年发病,又称成人型多
[Abstract]:Normal chromosomal dominant polycystic kidney disease (ADPKD) is an inherited single gene disease caused by mutation of PKD2 gene of polycystic kidney gene (1 (polycyseic kidneydisease gene PKD1). It is called type I ADPKD, type 鈪,

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