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An overview of SLC3A1 and SLC7A9 mutations in Greek cystinuria patients

✍ Scribed by Anthoula Chatzikyriakidou; Eirini Louizou; George V.Z. Dedousis; Luigi Bisceglia; Helen Michelakakis; Ioannis Georgiou

Book ID: 116988401
Publisher: Elsevier Science
Year: 2008
Tongue: English
Weight: 118 KB
Volume: 95
Category: Article
ISSN: 1096-7192
DOI: 10.1016/j.ymgme.2008.07.006

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## Communicated by Ulf Landegren 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 wit