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De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability.
Grozeva, Detelina; Carss, Keren; Spasic-Boskovic, Olivera; Parker, Michael J; Archer, Hayley; Firth, Helen V; Park, Soo-Mi; Canham, Natalie; Holder, Susan E; Wilson, Meredith; Hackett, Anna; Field, Michael; Floyd, James A B; Hurles, Matthew; Raymond, F Lucy.
Affiliation
  • Grozeva D; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK.
  • Carss K; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
  • Spasic-Boskovic O; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK.
  • Parker MJ; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Western Bank, Sheffield S10 2TH, UK.
  • Archer H; Institute of Medical Genetics, University Hospital of Wales, Heath Park, Cardiff CF14 4XW, UK.
  • Firth HV; Clinical Genetics, Addenbrooke's Treatment Centre, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge CB2 0QQ, UK.
  • Park SM; Clinical Genetics, Addenbrooke's Treatment Centre, Cambridge University Hospitals NHS Foundation Trust, Hills Road, Cambridge CB2 0QQ, UK.
  • Canham N; North West Thames Regional Genetics Service (Kennedy Galton Centre), North West London Hospitals NHS Trust, Harrow, Middlesex HA1 3UJ, UK.
  • Holder SE; North West Thames Regional Genetics Service (Kennedy Galton Centre), North West London Hospitals NHS Trust, Harrow, Middlesex HA1 3UJ, UK.
  • Wilson M; Department of Clinical Genetics, Children's Hospital at Westmead, Westmead, NSW 2145, Australia.
  • Hackett A; Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW 2298, Australia.
  • Field M; Department of Medical Genetics, Royal North Shore Hospital, St. Leonards, NSW 2298, Australia.
  • Floyd JA; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK; The Genome Centre, John Vane Science Centre, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
  • Hurles M; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
  • Raymond FL; Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK. Electronic address: flr24@cam.ac.uk.
Am J Hum Genet ; 94(4): 618-24, 2014 Apr 03.
Article de En | MEDLINE | ID: mdl-24680889
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Chromosomes humains de la paire 3 / Délétion de segment de chromosome / Déficience intellectuelle / Methyltransferases / Mutation Type d'étude: Prognostic_studies Limites: Adolescent / Child / Humans / Male Langue: En Journal: Am J Hum Genet Année: 2014 Type de document: Article Pays d'affiliation: Royaume-Uni Pays de publication: États-Unis d'Amérique
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Chromosomes humains de la paire 3 / Délétion de segment de chromosome / Déficience intellectuelle / Methyltransferases / Mutation Type d'étude: Prognostic_studies Limites: Adolescent / Child / Humans / Male Langue: En Journal: Am J Hum Genet Année: 2014 Type de document: Article Pays d'affiliation: Royaume-Uni Pays de publication: États-Unis d'Amérique