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Cystinuria caused by mutations in rBAT, a gene involved in the transport of cystine

✍ Scribed by Calonge, María Julia; Gasparini, Paolo; Chillarón, Josep; Chillón, Miguel; Gallucci, Michele; Rousaud, Ferran; Zelante, Leopoldo; Testar, Xavier; Dallapiccola, Bruno; Di Silverio, Franco


Book ID
109915686
Publisher
Nature Publishing Group
Year
1994
Tongue
English
Weight
692 KB
Volume
6
Category
Article
ISSN
1061-4036

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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