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Heterogeneous mutations in the SLC3A1 and SLC7A9 genes in Chinese patients with cystinuria

✍ Scribed by Yuen, Y-P; Lam, C-W; Lai, C-K; Tong, S-F; Li, P-S; Tam, S; Kwan, E Y-W; Chan, S-Y; Tsang, W-K; Chan, K-Y

Book ID
110052402
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
188 KB
Volume
69
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