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