Article
Molecular genetics of cystinuria: mutation analysis of SLC3A1 and evidence for another gene in type I (silent) phenotype.
Kidney international - 1 Jul 1998
Saadi I, Chen X Z, Hediger M, Ong P, Pereira P, Goodyer P, Rozen R
Abstract excerpt
BACKGROUND: Cystinuria is a hereditary disorder that affects luminal transport of cystine and dibasic amino acids in kidney and small intestine. Three subtypes have been defined on the basis of urinary excretion of cystine in obligate heterozygotes. Mutations in the SLC3A1 gene have been associat...
Topics
- Amino Acid Transport Systems, Basic
- Amino Acids
- Animals
- Blotting, Southern
- Carrier Proteins
- Cystinuria
- DNA Mutational Analysis
- DNA Primers
- Family Health
- Female
- Gene Expression
- Heterozygote
- Humans
- Infant, Newborn
- Male
- Membrane Glycoproteins
- Mutagenesis, Site-Directed
- Mutation