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Bi-allelic Mutations in ALDH5A1 is associated with succinic semialdehyde dehydrogenase deficiency and severe intellectual disability.

Autor: Fattahi M; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Bushehri A; Department of Medical Genetics, Ilam University of Medical Sciences, Pajuhesh street, Ilam, Iran., Alavi A; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Asghariazar V; Department of Medical Genetics, Faculty of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran., Nozari A; Medical Genetics Lab, Infertility Clinic, Shahrekord University of Medical Sciences, Shahrekord, Iran., Ghasemi Firouzabadi S; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Motamedian Dehkordi P; Islamic Azad University, Shahrekord Branch, Shahrekord, Iran., Javid M; Department of Genetics, Faculty of Advanced Sciences & Technology, Pharmaceutical Sciences Branch, Islamic Azad University, Tehran Iran IAUPS., Farajzadeh Valiliou S; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Karimian J; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran., Behjati F; Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. Electronic address: fbehjati@gmail.com.

Publikováno v: Gene [Gene] 2020 Jul 01, pp. 144918. Date of Electronic Publication: 2020 Jul 01.