Article
Significant contribution of genomic rearrangements in SLC3A1 and SLC7A9 to the etiology of cystinuria.
Kidney international - 1 Nov 2003
Schmidt Christa, Vester Udo, Wagner Carsten A, Lahme Sven, Hesse Albrecht, Hoyer Peter, Lang Florian, Zerres Klaus, Eggermann Thomas
Abstract excerpt
BACKGROUND: Cystinuria is an inherited disorder of defective renal reabsorption of cystine and the dibasic amino acids. Recently, SLC3A1 and SLC7A9 have been identified as responsible genes. While point mutations in the two genes are well known to cause cystinuria, only a few studies are aimed on the identification of gross genomic alterations. Here, we report our results of a systematic screening for deletions...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.