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Article

Molecular genetics of cystinuria in French Canadians: identification of four novel mutations in type I patients.

Kidney international - 1 May 1996

Horsford J, Saadi I, Raelson J, Goodyer P R, Rozen R

Abstract excerpt

Cystinuria, a hereditary disorder of cystine and dibasic amino acid reabsorption, has been classified into three subtypes on the basis of urinary excretion in obligate heterozygous parents. Thirteen cystinuric patients, identified primarily through the Quebec newborn urinary screening program, were investigated by phenotypic classification and by mutational analysis of the D2H (rBAT) gene. Mutations were...

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PMID: 8731106
DOI: 10.1038/ki.1996.197

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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