Article
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.
Human genetics - 1 Aug 2013
Halbritter Jan, Porath Jonathan D, Diaz Katrina A, Braun Daniela A, Kohl Stefan, Chaki Moumita, Allen Susan J, Soliman Neveen A, Hildebrandt Friedhelm, Otto Edgar A
Abstract excerpt
Nephronophthisis-related ciliopathies (NPHP-RC) are autosomal-recessive cystic kidney diseases. More than 13 genes are implicated in its pathogenesis to date, accounting for only 40 % of all cases. High-throughput mutation screenings of large patient cohorts represent a powerful tool for diagnostics and identification of novel NPHP genes. We here performed a new high-throughput mutation analysis method to study...
Read the complete abstract on PubMedTopics
- Adaptor Proteins, Signal Transducing
- Caroli Disease
- Cilia
- Cohort Studies
- Cytoskeletal Proteins