𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria

✍ 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

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Identification of 12 novel mutations in
✍ Lotta Harnevik; Erik Fjellstedt; Annette MolbΓ¦k; Hans-GΓΆran Tiselius; Torsten De πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 274 KB πŸ‘ 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

Identification of fifteen novel mutation
✍ Marie-Louise SyrΓ©n; Silvana Tedeschi; Laila Cesareo; Rosa Bellantuono; Giacomo C πŸ“‚ Article πŸ“… 2002 πŸ› John Wiley and Sons 🌐 English βš– 162 KB πŸ‘ 1 views

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