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المؤلفون: Martin Krahn, Christophe Béroud, Véronique Labelle, Karine Nguyen, Rafaëlle Bernard, Guillaume Bassez, Dominique Figarella-Branger, Carla Fernandez, Julien Bouvenot, Isabelle Richard, Elisabeth Ollagnon-Roman, Jorge A. Bevilacqua, Eric Salvo, Shahram Attarian, Françoise Chapon, Jean-François Pellissier, Jean Pouget, El Hadi Hammouda, Pascal Laforêt, Jon Andoni Urtizberea, Bruno Eymard, France Leturcq, Nicolas Lévy
المصدر: Human Mutation. 30:E345-E375
مصطلحات موضوعية: Genetics, 0303 health sciences, Mutation, Dysferlinopathy, biology, Nonsense mutation, medicine.disease_cause, medicine.disease, 3. Good health, Dysferlin, 03 medical and health sciences, 0302 clinical medicine, DNA Mutational Analysis, biology.protein, medicine, Missense mutation, Allele, 030217 neurology & neurosurgery, Genetics (clinical), 030304 developmental biology, Limb-girdle muscular dystrophy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c09a2ea60102043c327d5d23232120a9Test
https://doi.org/10.1002/humu.20910Test -
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المؤلفون: Karine Nguyen, Guillaume Bassez, Rafaëlle Bernard, Martin Krahn, Véronique Labelle, Dominique Figarella-Branger, Jean Pouget, El Hadi Hammouda, Christophe Béroud, Andoni Urtizberea, Bruno Eymard, France Leturcq, Nicolas Lévy
المصدر: Human Mutation. 26:592-592
مصطلحات موضوعية: Genetics, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::162298bcb7340c9b95be141e5793ccfaTest
https://doi.org/10.1002/humu.9388Test