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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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0 Published in 2017 at "Nefrologia"

DOI: 10.1016/j.nefro.2016.11.024

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. read more here.

Keywords: genetics; molecular genetics; gen; articlectns molecular ... See more keywords