Article
Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients.
Human mutation - 1 Dec 2001
Harnevik L, Fjellstedt E, Molbaek A, Tiselius H G, Denneberg T, Söderkvist P
Abstract excerpt
Cystinuria is an autosomal recessive disorder that affects luminal transport of cystine and dibasic amino acids in the kidneys and the small intestine. Three subtypes of cystinuria can be defined biochemically, and the classical form (type I) has been associated with mutations in the amino acid transporter gene SLC3A1. The mutations detected in SLC3A1 tend to be population specific and have not been previously...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.