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1
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 -
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المؤلفون: Peter Hackman, Sylvie Marchand, Bjarne Udd, Peter Van den Bergh, Isabelle Richard, Olivier Bouquiaux, Christine Verellen
المصدر: Annals of neurology. 54(2)
مصطلحات موضوعية: Male, medicine.medical_specialty, DNA Mutational Analysis, Muscle Proteins, Locus (genetics), Biology, Asymptomatic, Muscular Dystrophies, 03 medical and health sciences, 0302 clinical medicine, Tibialis anterior muscle, Belgium, Internal medicine, medicine, Humans, Point Mutation, Connectin, Family, Muscular dystrophy, Myopathy, Muscle, Skeletal, Creatine Kinase, Gait Disorders, Neurologic, 030304 developmental biology, Subclinical infection, Aged, 0303 health sciences, Leg, Electromyography, Anatomy, DNA, Exons, Middle Aged, medicine.disease, Penetrance, Pedigree, stomatognathic diseases, Neurology, biology.protein, Titin, Female, Neurology (clinical), medicine.symptom, Tomography, X-Ray Computed, human activities, Protein Kinases, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bbb5d62d3982a7bd5711ab5ba1d94b92Test
https://pubmed.ncbi.nlm.nih.gov/12891679Test