Article
The population-specific distribution and frequencies of genomic variants in the SLC3A1 and SLC7A9 genes and their application in molecular genetic testing of cystinuria.
Urological research - 1 May 2004
Schmidt Christa, Vester Udo, Hesse Albrecht, Lahme Sven, Lang Florian, Zerres Klaus, Eggermann Thomas
Abstract excerpt
Cystinuria is a common inherited aminoaciduria resulting in nephrolithiasis. Mutations in two genes, SLC3A1 and SLC7A9, have been identified in cystinuric patients. Considering the population-specific distribution of genetic variants in the SLC3A1 gene, we focused our study on mutations in SLC3A1 and SLC7A9 described more than once in the literature. We evaluated the usefulness of this restricted analysis as a...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.