المؤلفون: Truch, Julia, Downes, Damien J., Scott, Caroline, Gür, E. Ravza^{Aff1, Aff2}, Telenius, Jelena M.^{Aff1, Aff2}, Repapi, Emmanouela, Schwessinger, Ron^{Aff1, Aff2}, Gosden, Matthew, Brown, Jill M., Taylor, Stephen, Cheong, Pak Leng, Hughes, Jim R.^{Aff1, Aff2}, Higgs, Douglas R.^{Aff1, IDs41467022311947_cor13}, Gibbons, Richard J.^{Aff1, IDs41467022311947_cor14}

المصدر: Nature Communications. 13(1)

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المؤلفون: Rainger, Joe, Williamson, Kathleen A, Soares, Dinesh C, Truch, Julia, Kurian, Dominic, Gillessen‐Kaesbach, Gabriele, Seawright, Anne, Prendergast, James, Halachev, Mihail, Wheeler, Ann, McTeir, Lynn, Gill, Andrew C, van Heyningen, Veronica, Davey, Megan G, FitzPatrick, David R

المصدر: Rainger, J, Williamson, K, Soares, D, Truch, J, Thekkedath Kurian, D, Gillessen-Kaesbach, G, Seawright, A, Prendergast, J, Halachev, M, Wheeler, A, McTeir, L, Gill, A, Van Heyningen, V, Davey, M & FitzPatrick, D R 2017, ' A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma ', Human Mutation, vol. 38, no. 8, pp. 942-946 . https://doi.org/10.1002/humu.23246
Human Mutation

مصطلحات موضوعية: Male, Brief Report, Microfilament Proteins, Protein-Tyrosine Kinases, Ocular Coloboma, Actins, Coloboma, C431 Medical Genetics, Mice, ACTG1, Mutation, eye development, ocular coloboma, Animals, Humans, tissue fusion, Brief Reports, Female, Actin

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::bc3bac402a2d5c721a45149da93b25fa
https://www.pure.ed.ac.uk/ws/files/48771893/Rainger_et_al_2017_Human_Mutation.pdf

المؤلفون: Truch J; Medical Research Council (MRC) Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK., Telenius J; Medical Research Council (MRC) Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK., Higgs DR; Medical Research Council (MRC) Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK., Gibbons RJ; Medical Research Council (MRC) Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, OX3 9DS, UK. richard.gibbons@ndcls.ox.ac.uk.

المصدر: Methods in molecular biology (Clifton, N.J.) [Methods Mol Biol] 2018; Vol. 1832, pp. 105-130.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Humana Press Country of Publication: United States NLM ID: 9214969 Publication Model: Print Cited Medium: Internet ISSN: 1940-6029 (Electronic) Linking ISSN: 10643745 NLM ISO Abbreviation: Methods Mol Biol Subsets: MEDLINE

مواضيع طبية MeSH: Chromatin Immunoprecipitation/*methods , Cross-Linking Reagents/*chemistry , X-linked Nuclear Protein/*metabolism, Gene Library ; Humans ; Real-Time Polymerase Chain Reaction ; Reproducibility of Results ; Sonication

المؤلفون: Rainger J; The Roslin Institute and R(D)SVS, University of Edinburgh, Easter Bush Campus, Midlothian, UK., Williamson KA; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh, UK., Soares DC; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh, UK., Truch J; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh, UK., Kurian D; The Roslin Institute and R(D)SVS, University of Edinburgh, Easter Bush Campus, Midlothian, UK., Gillessen-Kaesbach G; Institut für Humangenetik Lübeck, Universitätsklinikum Schleswig-Holstein, Lübeck, Germany., Seawright A; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh, UK., Prendergast J; The Roslin Institute and R(D)SVS, University of Edinburgh, Easter Bush Campus, Midlothian, UK., Halachev M; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh, UK., Wheeler A; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh, UK., McTeir L; The Roslin Institute and R(D)SVS, University of Edinburgh, Easter Bush Campus, Midlothian, UK., Gill AC; The Roslin Institute and R(D)SVS, University of Edinburgh, Easter Bush Campus, Midlothian, UK., van Heyningen V; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh, UK., Davey MG; The Roslin Institute and R(D)SVS, University of Edinburgh, Easter Bush Campus, Midlothian, UK., FitzPatrick DR; MRC Human Genetics Unit, IGMM, University of Edinburgh, Western General Hospital, Edinburgh, UK.

مؤلفون مشاركون: UK10K; Wellcome Trust Sanger Institute, Genome Campus, Hinxton, Cambridgeshire, UK.

المصدر: Human mutation [Hum Mutat] 2017 Aug; Vol. 38 (8), pp. 942-946. Date of Electronic Publication: 2017 Jun 06.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

مواضيع طبية MeSH: Actins/*genetics , Coloboma/*etiology , Coloboma/*genetics, Animals ; Female ; Humans ; Male ; Mice ; Microfilament Proteins/genetics ; Mutation/genetics ; Protein-Tyrosine Kinases/genetics