- Article
A Case Series of Cystinuric Stone Formers in Western Cape, South Africa: SLC3A1 or SLC7A9 Mutations and Phenotype
- Lisa-Ann Kaestner,
- John Lazarus,
- Azola Salukazana,
- Elmi Muller and
- Karl-Heinz Jehle
Objective: To describe the genetic mutations and phenotype in the first African series of patients with cystinuria. Methods: Patients with cystinuria were recruited from a specialist metabolic renal stone clinic in Cape Town, South Africa, for DNA se...

