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Cystinuria in children: Distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes

✍ Scribed by Botzenhart, Elke; Vester, Udo; Schmidt, Christa; Hesse, Albrecht; Halber, Marc; Wagner, Carsten; Lang, Florian; Hoyer, Peter; Zerres, Klaus; Eggermann, Thomas


Book ID
109065213
Publisher
Nature Publishing Group
Year
2002
Tongue
English
Weight
81 KB
Volume
62
Category
Article
ISSN
0085-2538

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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