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المؤلفون: Donna M. Krasnewich, Susan Sparks, Lev G. Goldfarb, Marjan Huizing, Ioanna Mamali, Aleksey Shatunov, Goran Rakocevic, William A. Gahl, Marinos C. Dalakas
المصدر: Molecular genetics and metabolism. 81(3)
مصطلحات موضوعية: Adult, Glycosylation, Endocrinology, Diabetes and Metabolism, Compound heterozygosity, Biochemistry, Myositis, Inclusion Body, Endocrinology, Laminin, Multienzyme Complexes, Genetics, medicine, Dystroglycan, Humans, Muscular dystrophy, Dystroglycans, Muscle, Skeletal, Molecular Biology, Extracellular Matrix Proteins, Membrane Glycoproteins, biology, Hereditary inclusion body myopathy, Skeletal muscle, Muscle weakness, Middle Aged, medicine.disease, Molecular biology, N-Acetylneuraminic Acid, Cytoskeletal Proteins, medicine.anatomical_structure, Mutation, biology.protein, Female, medicine.symptom, ITGA7, Protein Binding
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d2a93d3af3b526cc99e072e1d349a59Test
https://pubmed.ncbi.nlm.nih.gov/14972325Test -
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المؤلفون: Josef Müller-Höcker, Yoon S. Shin, Hans-Christian Schneider, Benedikt Schoser, Wolfgang Müller-Felber, Claudio Bruno, Teodor Podskarbi, Lev G. Goldfarb
المصدر: Molecular Genetics and Metabolism. 97:94
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Skeletal muscle, Anatomy, Biology, Biochemistry, Endocrinology, medicine.anatomical_structure, Internal medicine, Mole, Genetics, medicine, Molecular Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::b2c67d368092b13e4ca49d91f0ed3586Test
https://doi.org/10.1016/j.ymgme.2009.02.004Test