Article
Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.
Nature genetics - 1 Nov 2001
Birkenhäger R, Otto E, Schürmann M J, Vollmer M, Ruf E M, Maier-Lutz I, Beekmann F, Fekete A, Omran H, Feldmann D, Milford D V, Jeck N, Konrad M, Landau D, Knoers N V, Antignac C, Sudbrak R, Kispert A, Hildebrandt F
Abstract excerpt
Antenatal Bartter syndrome (aBS) comprises a heterogeneous group of autosomal recessive salt-losing nephropathies. Identification of three genes that code for renal transporters and channels as responsible for aBS has resulted in new insights into renal salt handling, diuretic action and blood-pressure regulation. A gene locus of a fourth variant of aBS called BSND, which in contrast to the other forms is...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.