Article
Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease.
Journal of the American Society of Nephrology : JASN - 1 Nov 1999
Reynolds D M, Hayashi T, Cai Y, Veldhuisen B, Watnick T J, Lens X M, Mochizuki T, Qian F, Maeda Y, Li L, Fossdal R, Coto E, Wu G, Breuning M H, Germino G G, Peters D J, Somlo S
Abstract excerpt
It is estimated that approximately 15% of families with autosomal dominant polycystic kidney disease (ADPKD) have mutations in PKD2. Identification of these mutations is central to identifying functionally important regions of gene and to understanding the mechanisms underlying the pathogenesis of the disorder. The current study describes mutations in six type 2 ADPKD families. Two single base substitution...
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