𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Molecular genetics of cystinuria in French Canadians: Identification of four novel mutations in Type I patients

✍ Scribed by Horsford, Jonathan; Saadi, Irfan; Raelson, John; Goodyer, Paul R; Rozen, Rima

Book ID
109884404
Publisher
Nature Publishing Group
Year
1996
Tongue
English
Weight
535 KB
Volume
49
Category
Article
ISSN
0085-2538

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Identification of 12 novel mutations in
Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients
✍ 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