Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients.

Autor: Wasim M; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; NIBGE-College, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Nilore, Islamabad, Pakistan., Khan HN; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; NIBGE-College, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Nilore, Islamabad, Pakistan.; Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan., Ayesha H; Department of Pediatrics, Allied & DHQ Hospitals, Faisalabad Medical University (FMU/PMC), Faisalabad, Pakistan., Iqbal M; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; NIBGE-College, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Nilore, Islamabad, Pakistan., Tawab A; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; NIBGE-College, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Nilore, Islamabad, Pakistan., Irfan M; Department of Pediatrics, Allied & DHQ Hospitals, Faisalabad Medical University (FMU/PMC), Faisalabad, Pakistan., Kanhai W; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Duivendrecht, The Netherlands., Goorden SMI; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Duivendrecht, The Netherlands., Stroomer L; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Duivendrecht, The Netherlands., Salomons G; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Duivendrecht, The Netherlands., Vaz FM; Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam University Medical Centers, Duivendrecht, The Netherlands.; Departments of Pediatrics and Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Karnebeek CDMV; Departments of Pediatrics and Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands., Awan FR; Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; NIBGE-College, Pakistan Institute of Engineering and Applied Sciences (PIEAS), Nilore, Islamabad, Pakistan.

Publikováno v: Journal of pediatric endocrinology & metabolism : JPEM [J Pediatr Endocrinol Metab] 2021 Dec 14; Vol. 35 (3), pp. 325-332. Date of Electronic Publication: 2021 Dec 14 (Print Publication: 2022).