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Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations |
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| Authors: | Keyfi Fatemeh Abbaszadegan Mohammad R. Sankian Mojtaba Rolfs Arndt Orolicki Slobodanka Pournasrollah Mohammad Alijanpour Morteza Varasteh Abdolreza |
| Affiliation: | 1.Department of Medical Laboratory Sciences, Varastegan Institute for Medical Sciences, Mashhad, Iran ;2.Division of Metabolic disorders, Pardis Clinical and Genetic Laboratory, Mashhad, Iran ;3.Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran ;4.Division of Human Genetics, Immunology Research Center, Avicenna Research Institute, Mashhad University of Medical Sciences, Mashhad, Iran ;5.Immunology Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran ;6.Albrecht Kossel Institute for Neuroregeneration, University of Rostock, Rostock, Germany ;7.Chief Medical Director, Centogene AG, Rostock, Germany ;8.Clinical and medical scientist, Centogene AG, Rostock, Germany ;9.Non-contagious pediatric disease Research Center, Babol University of Medical Sciences, Babol, Iran ; |
| Abstract: | Molecular Biology Reports - Methylmalonic acidemia (MMA), an inherited metabolic disease, results from genetic defects in methylmalonyl-CoA mutase or any of the proteins involved in... |
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