Article
Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.
Kidney international - 1 Oct 2002
Botzenhart Elke, Vester Udo, Schmidt Christa, Hesse Albrecht, Halber Marc, Wagner Carsten, Lang Florian, Hoyer Peter, Zerres Klaus, Eggermann Thomas
Abstract excerpt
BACKGROUND: Cystinuria is a common inherited disorder of defective renal reabsorption of cystine, ornithine, lysine and arginine leading to nephrolithiasis. Two responsible genes have been identified so far: Mutations in the SLC3A1 gene encoding the heavy chain rbAT of the renal cystine transport system rbAT/b(0,+)AT cause cystinuria type I, while variants in SLC7A9, the gene of its light chain b(0,+)AT, have...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.