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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 associated with the Type I phenotype. METHODS: We investigated 20 cystinuria patients from Quebec (8 Type I/I, 9 Type I/III and...

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Identifiers

PMID: 9648062
DOI: 10.1046/j.1523-1755.1998.00956.x

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