Putative mutation of PKD1 gene responsible for autosomal dominant polycystic kidney disease in a Chinese family.


Autosomal dominant polycystic kidney disease (ADPKD) is a common and severe renal disease. Mutations of PKD1 and PKD2 genes are responsible for approximately 85% and 15% of ADPKD cases, respectively. In the present study, PKD1 and PKD2 genes were analyzed in a large Chinese family with ADPKD using denaturing high-performance liquid chromatography and DNA… (More)
DOI: 10.1111/j.1442-2042.2010.02709.x