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Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.
Pagnamenta, Alistair T; Murakami, Yoshiko; Taylor, John M; Anzilotti, Consuelo; Howard, Malcolm F; Miller, Venessa; Johnson, Diana S; Tadros, Shereen; Mansour, Sahar; Temple, I Karen; Firth, Rachel; Rosser, Elisabeth; Harrison, Rachel E; Kerr, Bronwen; Popitsch, Niko; Kinoshita, Taroh; Taylor, Jenny C; Kini, Usha.
Afiliación
  • Pagnamenta AT; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Murakami Y; Department of Immunoregulation, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan.
  • Taylor JM; World Premier International Immunology Frontier Research Center, Osaka University, Osaka, Japan.
  • Anzilotti C; Oxford NHS Regional Molecular Genetics Laboratory, Oxford University Hospitals NHS Trust, Oxford, UK.
  • Howard MF; The Henry Wellcome Building for Molecular Physiology, University of Oxford, Oxford, UK.
  • Miller V; National Institute for Health Research Oxford Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
  • Johnson DS; Department of Clinical Genetics, Oxford University Hospitals NHS Trust, Oxford, UK.
  • Tadros S; Sheffield Children's Hospital, Western Bank, Sheffield, UK.
  • Mansour S; South West Thames Regional Genetics Service, St George's Healthcare NHS Foundation Trust, London, UK.
  • Temple IK; South West Thames Regional Genetics Service, St George's Healthcare NHS Foundation Trust, London, UK.
  • Firth R; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton and Wessex Clinical Genetics Service, University Hospital NHS Trust, Princess Anne Hospital, Southampton, UK.
  • Rosser E; Human Genetics and Genomic Medicine, Faculty of Medicine, University of Southampton and Wessex Clinical Genetics Service, University Hospital NHS Trust, Princess Anne Hospital, Southampton, UK.
  • Harrison RE; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Trust, London, UK.
  • Kerr B; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, Nottingham, UK.
  • Popitsch N; Manchester Centre for Genomic Medicine, Institute of Human Development, Faculty of Medical and Human Sciences, University of Manchester, Manchester, UK.
  • Taylor JC; Department of Immunoregulation, Research Institute for Microbial Diseases, Osaka University, Osaka, Japan.
  • Kini U; World Premier International Immunology Frontier Research Center, Osaka University, Osaka, Japan.
Eur J Hum Genet ; 25(6): 669-679, 2017 06.
Article en En | MEDLINE | ID: mdl-28327575
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fosfotransferasas / Aciltransferasas / Discapacidades del Desarrollo / N-Acetilglucosaminiltransferasas / Polimorfismo de Nucleótido Simple / Exoma / Proteínas de la Membrana Límite: Adult / Child / Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fosfotransferasas / Aciltransferasas / Discapacidades del Desarrollo / N-Acetilglucosaminiltransferasas / Polimorfismo de Nucleótido Simple / Exoma / Proteínas de la Membrana Límite: Adult / Child / Humans Idioma: En Revista: Eur J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Reino Unido Pais de publicación: Reino Unido