Identification of a novel homozygous frameshift mutation in SLC29A3 gene in a case with H syndrome from Iran.

Autor: Bagherian R; Pediatric Gastroenterology, Children Growth Research center, Qazvin University of Medical Sciences, Qazvin, Iran., Yousefipour F; National Institute of Genetic Engineering and Biotechnology, Tehran, Iran., Mousavi HS; Sana Medical Genetics Laboratory, Qazvin, Iran., Saffari F; Pediatric Endocrinology, Children Growth Research Center, Qazvin University of Medical Sciences, Qazvin, Iran., HajiShafieha E; Sana Medical Genetics Laboratory, Qazvin, Iran., Mohammadi SN; Sana Medical Genetics Laboratory, Qazvin, Iran., Mousakhani H; Pediatric Hematology and Oncology, Children Growth Research Center, Qazvin University of Medical Sciences, Qazvin, Iran., Fathi SM; Pediatric Clinical Immunology, Children Growth Research Center, Qazvin University of Medical Sciences, Qazvin, Iran., Mehrtash A; Ronash Medical Genetics Laboratory, Tehran, Iran., Verki FM; Sana Medical Genetics Laboratory, Qazvin, Iran., Lee D; The Hospital for Sick Children, University of Toronto, Canada., Heidari A; Sana Medical Genetics Laboratory, Qazvin, Iran; Refrence Laboratory of Qazvin Medical University, Qazvin, Iran. Electronic address: Lab_darman@qums.ac.ir.

Publikováno v: Current research in translational medicine [Curr Res Transl Med] 2019 May; Vol. 67 (2), pp. 72-75. Date of Electronic Publication: 2019 Feb 02.