Article
In silico analysis of SLC3A1 and SLC7A9 mutations in Iranian patients with Cystinuria.
Molecular biology reports - 1 Oct 2018
Mahdavi Manijeh, Koulivand Leila, Khorrami Mehdi, Mirsafaie Maryam, Kheirollahi Majid
Abstract excerpt
Cystinuria is an autosomal recessive defect in reabsorptive transport of cystine and the dibasic amino acids ornithine, arginine, and lysine from renal tubule and small intestine. Mutations in two genes: SLC3A1, encoding the heavy chain rbAT of the renal cystine transport system and SLC7A9, the gene of its light chain b0, + AT have a crucial role in the diseases. In our previous studies from Iranian populations...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.