Article
Mutations in the SLC3A1 transporter gene in cystinuria.
American journal of human genetics - 1 Jun 1995
Pras E, Raben N, Golomb E, Arber N, Aksentijevich I, Schapiro J M, Harel D, Katz G, Liberman U, Pras M
Abstract excerpt
Cystinuria is an autosomal recessive disease characterized by the development of kidney stones. Guided by the identification of the SLC3A1 amino acid-transport gene on chromosome 2, we recently established genetic linkage of cystinuria to chromosome 2p in 17 families, without evidence for locus heterogeneity. Other authors have independently identified missense mutations in SLC3A1 in cystinuria patients. In this...
Topics
- Americas
- Amino Acid Transport Systems, Basic
- Amino Acids
- Base Sequence
- Biological Transport
- Carrier Proteins
- Chromosomes, Human, Pair 2
- Cystinuria
- Europe
- Female
- Gene Frequency