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المؤلفون: Sem Bakker, Sabine Defoort, Eline Manders, Maartje van de Vorst, Mubeen Khan, Muhammad Imran Khan, Christian Gilissen, Duaa Elmelik, Frans P.M. Cremers, Ronny Derks, Aurore Devos, Felix Grassmann, Bernhard H. F. Weber, Claire Marie Dhaenens, Heidi Stöhr, Isabelle Meunier, Stéphanie S. Cornelis, Kornelia Neveling, Bernard Puech, Heidi L. Schulz
المصدر: Human Mutation, 40, 1749-1759
Human Mutation, 40, 10, pp. 1749-1759مصطلحات موضوعية: Sequence analysis, RNA Splicing, DNA Mutational Analysis, ABCA4, Biology, Molecular Inversion Probe, DNA sequencing, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], 03 medical and health sciences, Exon, All institutes and research themes of the Radboud University Medical Center, Germany, Genetics, medicine, Humans, Stargardt Disease, splice, Genetic Predisposition to Disease, Genetics (clinical), Alleles, Genetic Association Studies, 030304 developmental biology, 0303 health sciences, 030305 genetics & heredity, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Computational Biology, High-Throughput Nucleotide Sequencing, Molecular Sequence Annotation, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Exons, medicine.disease, Introns, Pedigree, Stargardt disease, Molecular Probes, RNA splicing, Mutation, biology.protein, ATP-Binding Cassette Transporters
