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المؤلفون: Hans H. Goebel, Patrick Vicart, Montse Olivé, Lev G. Goldfarb
المصدر: Advances in Experimental Medicine and Biology ISBN: 9780387848464
مصطلحات موضوعية: Genetics, Pathology, medicine.medical_specialty, Point mutation, Mutant, Cardiomyopathy, Intermediate Filaments, alpha-Crystallin B Chain, Gene mutation, Biology, medicine.disease, Sudden death, Polymorphism, Single Nucleotide, Article, Upper limb muscle weakness, Desmin, Muscular Diseases, medicine, Disease Progression, Animals, Humans, Intermediate filament
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29870667ee27073c7f94b7651af11498Test
https://europepmc.org/articles/PMC2776705Test/ -
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المؤلفون: Shawn M. Burgess, Eric D. Green, Shih Queen Lee-Lin, Lev G. Goldfarb, Kenneth H. Fischbeck, Anthony Antonellis, Paul Leo, Martha Quezado, Kyungjae Myung, Amy S. Wasterlain
مصطلحات موضوعية: Glycine-tRNA Ligase, Neurite, Mutant, Biology, medicine.disease_cause, Glycine—tRNA ligase, Mice, Charcot-Marie-Tooth Disease, Cell Line, Tumor, Chlorocebus aethiops, medicine, Animals, Humans, Peripheral Nerves, Gene, Cells, Cultured, Genetics, chemistry.chemical_classification, Mutation, General Neuroscience, Articles, Phenotype, Axons, Amino acid, chemistry, Gene Expression Regulation, Transfer RNA, COS Cells, Transfer RNA Aminoacylation
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::15ed7645ee0db4365c06989cac7e2cb5Test
https://europepmc.org/articles/PMC6674701Test/