A Case Series of Cystinuric Stone Formers in Western Cape, South Africa: SLC3A1 or SLC7A9 Mutations and Phenotype

A Case Series of Cystinuric Stone Formers in Western Cape, South Africa: SLC3A1 or SLC7A9 Mutations and Phenotype

ObjectiveTo describe the genetic mutations and phenotype in the first African series of patients with cystinuria. MethodsPatients with cystinuria were recruited from a specialist metabolic renal stone clinic in Cape Town, South Africa, for DNA sequencing to detect mutations in SLC3A1 and SLC7A9. Ch...

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Bibliographic Details
Main Authors: Lisa-Ann Kaestner, John Lazarus, Azola Salukazana, Elmi Muller, Karl-Heinz Jehle
Format: Article
Language:English
Published: The Société Internationale d’Urologie (SIU) 2023-05-01
Series:Société Internationale d’Urologie Journal
Subjects:
case series
cystinuria
renal stones
mutations
south africa
genetics
Online Access:https://siuj.org/index.php/siuj/article/view/261/209

Internet

https://siuj.org/index.php/siuj/article/view/261/209

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