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- Title
Cystinuria in children: distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes.
- Authors
Botzenhart, Elke; Vester, Udo; Schmidt, Christa; Hesse, Albrecht; Halber, Marc; Wagner, Carsten; Lang, Florian; Hoyer, Peter; Zerres, Klaus; Eggermann, Thomas; Arbeitsgemeinschaft für Pädiatrische Nephrologie (APN)
- Abstract
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 been demonstrated in non-type I cystinuria. In this study, we searched for mutations in both genes in a cohort of children with cystinuria.
- Publication
Kidney international, 2002, Vol 62, Issue 4, p1136
- ISSN
0085-2538
- Publication type
Journal Article
- DOI
10.1111/j.1523-1755.2002.kid552.x