Ontology highlight
ABSTRACT:
SUBMITTER: Saisawat P
PROVIDER: S-EPMC3836012 | biostudies-literature | 2012 Jan
REPOSITORIES: biostudies-literature
Saisawat Pawaree P Tasic Velibor V Vega-Warner Virginia V Kehinde Elijah O EO Günther Barbara B Airik Rannar R Innis Jeffrey W JW Hoskins Bethan E BE Hoefele Julia J Otto Edgar A EA Hildebrandt Friedhelm F
Kidney international 20110907 2
Congenital abnormalities of the kidney and urinary tract (CAKUT) are the most frequent cause of chronic kidney disease in children, accounting for about half of all cases. Although many forms of CAKUT are likely caused by single-gene defects, mutations in only a few genes have been identified. In order to detect new contributing genes we pooled DNA from 20 individuals to amplify all 313 exons of 30 CAKUT candidate genes by PCR analysis and massively parallel exon resequencing. Mutation carriers ...[more]