Autosomal dominant polycystic kidney disease: A two-hit model

被引:25
作者
Germino, GG
机构
[1] Johns Hopkins School of Medicine, Baltimore, MD
关键词
D O I
10.1080/21548331.1997.11443444
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
The clinical and histopathologic variability of this common genetic disorder-a leading cause of renal failure-cannot be explained by inherited mutation. Instead, the disease evidently progresses by a second hit: somatic mutation superimposed on germline mutation. The source of the mutability appears to be DNA triple-helixing, as mediated by some odd genetic code, the longest polypyrimidine tract ever found in the human genome.
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页码:81 / +
页数:1
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