Identification of 12 novel mutations in
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Lotta Harnevik; Erik Fjellstedt; Annette Molbæk; Hans-Gâran Tiselius; Torsten De
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Article
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2001
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John Wiley and Sons
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English
β 274 KB
π 2 views
## 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