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Article

Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients.

Annals of human genetics - 1 Sept 2005

Skopková Zuzana, Hrabincová Eva, Stástná Sylvie, Kozák Libor, Adam Tomás

Abstract excerpt

Cystinuria is a frequently inherited metabolic disorder in the Czech population (frequency 1/5,600) caused by a defect in the renal transport of cystine and dibasic amino acids (arginine, lysine and ornithine). The disease is characterized by increased urinary excretion of the amino acids and often leads to recurrent nephrolithiasis. Cystinuria is classified into two subtypes (type I and type non-I). Type I is...

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PMID: 16138908
DOI: 10.1111/j.1529-8817.2005.00185.x

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