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Genetic basis of cystinosis in Turkish patients: a single-center experience.
Topaloglu R, Vilboux T, Coskun T, Ozaltin F, Tinloy B, Gunay-Aygun M, Bakkaloglu A, Besbas N, van den Heuvel L, Kleta R, Gahl WA. Topaloglu R, et al. Pediatr Nephrol. 2012 Jan;27(1):115-21. doi: 10.1007/s00467-011-1942-6. Epub 2011 Jul 24. Pediatr Nephrol. 2012. PMID: 21786142 Free PMC article.
Analysis of the CTNS gene in 32 cystinosis patients from Spain.
Macías-Vidal J, Rodés M, Hernández-Pérez JM, Vilaseca MA, Coll MJ. Macías-Vidal J, et al. Clin Genet. 2009 Nov;76(5):486-9. doi: 10.1111/j.1399-0004.2009.01222.x. Clin Genet. 2009. PMID: 19863563 No abstract available.