-
1
المؤلفون: Aurore Germain, Veselina Moskova-Doumanova, Guylène Le Meur, Francis L. Munier, Christina Zeitz, Kim T. Nguyen-Ba-Charvet, Jean-Paul Saraiva, Bernd Wissinger, Hoan Nguyen, Eberhart Zrenner, Elise Orhan, Samuel G. Jacobson, Aline Antonio, Daniel F. Schorderet, Agnes B. Renner, Susanne Kohl, Wolfgang Berger, Sabine Defoort-Dhellemmes, Christian P. Hamel, Dror Sharon, Françoise Meire, Katrina Prescott, Bart P. Leroy, Dominique Bonneau, Ian Simmons, Ulrich Kellner, Hélène Dollfus, Thierry Léveillard, Xavier Zanlonghi, Christelle Michiels, Olivier Poch, Odile Lecompte, Robert K. Koenekoop, Isabelle Drumare, Marie-Elise Lancelot, Thomy de Ravel, Birgit Lorenz, Vernon Long, Christoph Friedburg, Markus N. Preising, Tien D. Luu, Mélanie Letexier, Eyal Banin, Elfride De Baere, Kinga M. Bujakowska, José-Alain Sahel, Charlotte M. Poloschek, Isabelle Audo, Claire Audier, Shomi S. Bhattacharya, Ingele Casteels, Saddek Mohand-Said
المساهمون: Institut des Maladies Rares (France), Retina France, Fondation Voir et Entendre, Agence Nationale de la Recherche (France), Foundation Fighting Blindness, Région Ile-de-France, Association Française contre les Myopathies, National Institutes of Health (US), University of Zurich, Zeitz, Christina, Clinical sciences, Medical Genetics
المصدر: Digital.CSIC. Repositorio Institucional del CSIC
instnameمصطلحات موضوعية: Gamma-Subunit, Male, Electroretinography/methods, Genotyping Techniques, Phenotypic Impact, Receptors, Metabotropic Glutamate, Receptors, G-Protein-Coupled, 11124 Institute of Medical Molecular Genetics, 0302 clinical medicine, Cone dystrophy, Night Blindness, Myopia, Missense mutation, Genetics(clinical), Cone Dystrophy, Exome, Genetics (clinical), Exome sequencing, Sanger sequencing, Congenital stationary night blindness, Genetics, 0303 health sciences, Muscular-Dystrophy, Channel Subunit, Bipolar Cells, Homozygote, Genotyping Techniques/methods, Receptors, Metabotropic Glutamate/genetics, Eye Diseases, Hereditary, Genetic Diseases, X-Linked, 3. Good health, Phenotype, Mouse Retina, symbols, Proteoglycans, Female, Erratum, Myopia/genetics, Heterozygote, 2716 Genetics (clinical), mice, TRPM Cation Channels, 610 Medicine & health, Biology, Night Blindness/genetics, Polymorphism, Single Nucleotide, Retina, Frameshift mutation, Genetic Heterogeneity, 03 medical and health sciences, symbols.namesake, 1311 Genetics, Report, Electroretinography, medicine, Animals, Humans, Alleles, TRPM1, 030304 developmental biology, Retina/abnormalities, Protein, medicine.disease, Protein Structure, Tertiary, Proteoglycans/genetics, Cgmp-Phosphodiesterase, Complete Form, TRPM Cation Channels/genetics, 030221 ophthalmology & optometry, 570 Life sciences, biology, sense organs, mutation, Receptors, G-Protein-Coupled/genetics, exome, 030217 neurology & neurosurgery
وصف الملف: Whole_exome_sequencing_identifies_mutations_in_GPR179_leading_to_autosomal_recessive_complete_congenital_stationary_night_blindness.pdf - application/pdf; Print
إعادة تعيين المنقحات
عرض المنقحات (%%عد%%)