المؤلفون: Matthew Mort, Gérald Le Gac, Jin-Huan Lin, Shun-Jiang Deng, Chandran Ka, David N. Cooper, Wen-Bin Zou, Yann Fichou, Arnaud Boulling, Emmanuelle Masson, Jian-Min Chen, Isabelle Berlivet, Matthew J. Hayden, Zhuan Liao, Xin-Ying Tang, Loann Raud, Raphaël Leman, Marlène Le Tertre, Zhao-Shen Li, Claude Férec, Claude Houdayer

المساهمون: INSERM U1078, Université de Brest (UBO), Etablissement Français du Sang Bretagne, EFS, Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Institute of Medical Genetics, College of Medicine, Cardiff University, Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)-Normandie Université (NU), UNIROUEN - UFR Santé (UNIROUEN UFR Santé), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Institute of Medical Genetics, Cardiff University-School of Medicine, Shanghai Institute of Pancreatic Diseases, Shanghai, China, Shanghai Institute of Pancreatic Diseases, BOULLING, Arnaud, EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Second Military Medical University [Shanghai], Shanghai Institute of Pancreatic Diseases [Shanghai, China], Hôpital Morvan - CHRU de Brest (CHU - BREST ), Laboratoire d'Excellence : Biogenèse et pathologies du globule rouge (Labex Gr-Ex), Université Sorbonne Paris Cité (USPC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN)

المصدر: Human Mutation
Human Mutation, Wiley, 2019, 40 (10), pp.1856-1873. ⟨10.1002/humu.23821⟩

مصطلحات موضوعية: full-length gene splicing assay, [SDV]Life Sciences [q-bio], Gene splicing, human inherited disease, noncanonical splice donor site, canonical 5′ splice site, Biology, genotype and phenotype relationship, 03 medical and health sciences, Human disease, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], Genetics, Humans, Position-Specific Scoring Matrices, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Nucleotide Motifs, Clinical phenotype, Gene, Cells, Cultured, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), 030304 developmental biology, 0303 health sciences, [SDV.GEN]Life Sciences [q-bio]/Genetics, Base Sequence, Gene Expression Profiling, 030305 genetics & heredity, Wild type, Computational Biology, Genetic Variation, High-Throughput Nucleotide Sequencing, Exons, Sequence Analysis, DNA, Introns, [SDV] Life Sciences [q-bio], Alternative Splicing, Gene Expression Regulation, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Cell culture, RNA splicing, [SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], RNA Splice Sites, Databases, Nucleic Acid, human gene mutation database, Small nuclear RNA

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::758fc6fdcd950314e38c8b1e213f1124
https://hal.inrae.fr/hal-02947010

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