Article
Genetic and physical interaction between the NPHP5 and NPHP6 gene products.
Human molecular genetics - 1 Dec 2008
Schäfer Tobias, Pütz Michael, Lienkamp Soeren, Ganner Athina, Bergbreiter Astrid, Ramachandran Haribaskar, Gieloff Verena, Gerner Martin, Mattonet Christian, Czarnecki Peter G, Sayer John A, Otto Edgar A, Hildebrandt Friedhelm, Kramer-Zucker Albrecht, Walz Gerd
Abstract excerpt
Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease, caused by mutations of at least nine different genes. Several extrarenal manifestations characterize this disorder, including cerebellar defects, situs inversus and retinitis pigmentosa. While the clinical manifestations vary significantly in NPHP, mutations of NPHP5 and NPHP6 are always associated with progressive blindness. This clinical...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.