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Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations.

Autor: Sadeghipour F; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran., Basiratnia M; Department of Pediatric Nephrology, Namazi Hospital, Shiraz University of Medical Sciences, Shiraz, Iran., Derakhshan A; Department of Pediatric Nephrology, Namazi Hospital, Shiraz University of Medical Sciences, Shiraz, Iran., Fardaei M; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.; Transgenic Technology Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

Publikováno v: Human genome variation [Hum Genome Var] 2017 Oct 05; Vol. 4, pp. 17038. Date of Electronic Publication: 2017 Oct 05 (Print Publication: 2017).