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Original articleCTNS molecular genetics profile in a Persian nephropathic cystinosis populationPerfil genético molecular del gen CTNS en una población persa con cistinosis nefropática

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Purpose In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1–17 years. All presented initially with severe failure to thrive, polyuria, and… Click to show full abstract

Purpose In this report, we document the CTNS gene mutations of 28 Iranian patients with nephropathic cystinosis age 1–17 years. All presented initially with severe failure to thrive, polyuria, and polydipsia.

Keywords: genetics; molecular genetics; gen; articlectns molecular; original articlectns; nephropathic cystinosis

Journal Title: Nefrologia
Year Published: 2017

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