## 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
β¦ LIBER β¦
Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria
β Scribed by Endsley, John K; Phillips, John A; Hruska, Keith A; Denneberg, Torsten; Carlson, Joyce; George, Alfred L
- Book ID
- 109884827
- Publisher
- Nature Publishing Group
- Year
- 1997
- Tongue
- English
- Weight
- 631 KB
- Volume
- 51
- Category
- Article
- ISSN
- 0085-2538
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The SLC12A3 gene encodes the thiazide-sensitive Na-Cl co-transporter (NCCT) expressed in the apical membrane of the distal convoluted tubule of the kidney. Inactivating mutations of this gene are responsible for Gitelman syndrome (GS), a disorder inherited as an autosomal recessive trait. We searche