المؤلفون: Vera M. Kalscheuer, Roel Hordijk, Astrid R. Oudakker, Sander B. Nabuurs, B. B. A. De Vries, Annemieke Aartsma-Rus, Tjitske Kleefstra, T. van Essen, J.T. den Dunnen, Jamel Chelly, Krysta Voesenek, Ben C.J. Hamel, Ingrid E.C. Verhaart, Helger G. Yntema, Wei Chen, J.M. Hordijk-Hos, H Van Bokhoven, Hao Hu, A.P.M. de Brouwer

المصدر: European Journal of Human Genetics, 22, 4, pp. 480-5
European Journal of Human Genetics, 22(4), 480-485
European Journal of Human Genetics, 22, 480-5
European journal of human genetics
European Journal of Human Genetics, 22(4), 480-485. Nature Publishing Group

مصطلحات موضوعية: Male, Protein Conformation, X-linked intellectual disability, Muscular Dystrophies, Exon, Muscular dystrophy, Dystroglycans, Base Pairing, Cells, Cultured, Genetics (clinical), Sequence Deletion, Genetics, biology, SITE, Genetic Diseases, X-Linked, Exons, Pedigree, PCR, TRANSCRIPT, Dystrophin, Adult, EXPRESSION, musculoskeletal diseases, DUCHENNE, congenital, hereditary, and neonatal diseases and abnormalities, Genotype, Locus (genetics), Article, dystrophin, WW DOMAIN, Genetic linkage, Intellectual Disability, DMD, medicine, Humans, RNA, Messenger, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Aged, locus, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], BETA-DYSTROGLYCAN, LINKED MENTAL-RETARDATION, DNA, medicine.disease, Molecular biology, GENE, Genetic Loci, Mutation, MRX85, biology.protein, Creatine kinase, Lod Score, Dp71

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aceb32ea4b1d8fea2f2e7189049198f3
https://doi.org/10.1038/ejhg.2013.169