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1
المؤلفون: Fabrice Michel, Cristina Domínguez-González, Gabriel Viennet, H. Orhan Akman, Johanna Nilsson, Carola Hedberg-Oldfors, Cornelia Kornblum, Aurelio Hernández-Laín, Salvatore DiMauro, Norma B. Romero, Peter Van den Bergh, Anders Oldfors, Andrew G. Engel, Edoardo Malfatti
المصدر: Annals of Neurology. 76:891-898
مصطلحات موضوعية: 0303 health sciences, medicine.medical_specialty, Glycogenin, Skeletal muscle, Biology, Compound heterozygosity, medicine.disease, 3. Good health, Glycogen debranching enzyme, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, medicine.anatomical_structure, Neurology, Internal medicine, medicine, biology.protein, Glycogen storage disease, Neurology (clinical), medicine.symptom, Myopathy, Glycogen synthase, GSK3B, 030217 neurology & neurosurgery, 030304 developmental biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5cf0f6d180b7e5aae9952ad294fc083dTest
https://doi.org/10.1002/ana.24284Test -
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المؤلفون: Caroline Sewry, Peter Van den Bergh, Francesco Muntoni, Corrado Angelini, Salla Ranta, Vilma Lotta Lehtokari, Kati Donner, Kate Bushby, Katarina Pelin, Susan T. Iannaccone, Nigel G. Laing, Carina Wallgren-Pettersson, Maria Sandbacka
المصدر: Human mutation. 27(9)
مصطلحات موضوعية: Male, Nonsense mutation, DNA Mutational Analysis, Muscle Proteins, Genes, Recessive, Biology, Compound heterozygosity, Myopathies, Nemaline, 03 medical and health sciences, Exon, Nebulin, 0302 clinical medicine, Tropomyosin binding, Nemaline myopathy, Genetics, medicine, Humans, Point Mutation, Frameshift Mutation, Genetics (clinical), Chromatography, High Pressure Liquid, 030304 developmental biology, 0303 health sciences, Point mutation, Exons, medicine.disease, Molecular biology, Exon skipping, Introns, 3. Good health, Codon, Nonsense, biology.protein, Female, RNA Splice Sites, 030217 neurology & neurosurgery, Gene Deletion
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35a256f7181c370426ab73d084036ea4Test
https://pubmed.ncbi.nlm.nih.gov/16917880Test