Article
CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia - 1 Jan 2000
Ghazi Farideh, Hosseini Rozita, Akouchekian Mansoureh, Teimourian Shahram, Ataei Kachoei Zohreh, Otukesh Hassan, Gahl William A, Behnam Babak
Abstract excerpt
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. METHODS: Cystinosis was primarily diagnosed by a pediatric nephrologist and then referred to the Iran University of Medical Sciences genetics clinic for consultation and molecular analysis, which involved...
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