Article
Molecular characterization of cystinuria in south-eastern European countries.
Urolithiasis - 1 Feb 2013
Popovska-Jankovic Katerina, Tasic Velibor, Bogdanovic Radovan, Miljkovic Predrag, Golubovic Emilija, Soylu Alper, Saraga Marjan, Pavicevic Snezana, Baskin Esra, Akil Ipek, Gregoric Alojz, Lilova Marusia, Topaloglu Rezan, Sukarova Stefanovska Emilija, Plaseska-Karanfilska Dijana
Abstract excerpt
Cystinuria is an autosomal recessive disorder caused by defective transport of cystine and dibasic amino acids in the proximal renal tubules and small intestine. So far, more than 128 mutations in SLC3A1 gene, and 93 in SLC7A9 gene have been described as a cause of cystinuria. We present a molecular characterization of the cystinuria in 47 unrelated south-east European families. The molecular methodology included...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.