Article
Cystinuria type I: identification of eight new mutations in SLC3A1.
Kidney international - 1 Apr 2001
Bisceglia L, Purroy J, Jiménez-Vidal M, d'Adamo A P, Rousaud F, Beccia E, Penza R, Rizzoni G, Gallucci M, Palacín M, Gasparini P, Nunes V, Zelante L
Abstract excerpt
BACKGROUND: Cystinuria is a heritable disorder of amino acid transport characterized by the defective transport of cystine and the dibasic amino acids through the brush border epithelial cells of the renal tubule and intestine tract. Three types of cystinuria (I, II, and III) have been described based on the urinary excretion of cystine and dibasic amino acids in obligate heterozygotes. The SLC3A1 gene coding for...
Topics
- Adolescent
- Adult
- Aged
- Base Sequence
- Child, Preschool
- Cystinuria
- Gene Frequency
- Humans
- Membrane Transport Proteins
- Middle Aged
- Mutation