Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs

@article{Henthorn2000CanineCP,
  title={Canine cystinuria: polymorphism in the canine SLC3A1 gene and identification of a nonsense mutation in cystinuric Newfoundland dogs},
  author={Paula Henthorn and Junlong Liu and Tanya Gidalevich and Jikang Fang and Mercedes Casal and Donald Patterson and Urs Giger},
  journal={Human Genetics},
  year={2000},
  volume={107},
  pages={295-303}
}
Cystinuria is an inherited renal and intestinal disease characterized by defective amino acid reabsorption and cystine urolithiasis. Different forms of the disease, designated type I and non-type I in cystinuric humans, can be distinguished clinically and biochemically, and have been associated with mutations in the SLC3A1 (rBAT) and SLC7A9 genes, respectively. Type I cystinuria is the most common form and is inherited as an autosomal recessive trait in humans. Cystinuria has been recognized in… CONTINUE READING