Aberrant splicing in the PKD2 gene as a cause of polycystic kidney disease
DM Reynolds, T Hayashi, Y Cai… - Journal of the …, 1999 - journals.lww.com
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 mutations discovered in the ORF in
exon 14 constitute the most COOH-terminal pathogenic variants described to date. One of …
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 mutations discovered in the ORF in
exon 14 constitute the most COOH-terminal pathogenic variants described to date. One of …