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Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
Sousa, Sérgio B; Jenkins, Dagan; Chanudet, Estelle; Tasseva, Guergana; Ishida, Miho; Anderson, Glenn; Docker, James; Ryten, Mina; Sa, Joaquim; Saraiva, Jorge M; Barnicoat, Angela; Scott, Richard; Calder, Alistair; Wattanasirichaigoon, Duangrurdee; Chrzanowska, Krystyna; Simandlová, Martina; Van Maldergem, Lionel; Stanier, Philip; Beales, Philip L; Vance, Jean E; Moore, Gudrun E.
Afiliación
  • Sousa SB; 1] Clinical and Molecular Genetics Unit, University College London (UCL) Institute of Child Health, London, UK. [2] Serviço de Genética Médica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Jenkins D; 1] Molecular Medicine Unit, UCL Institute of Child Health, London, UK. [2].
  • Chanudet E; 1] Centre for Translational Genomics-GOSgene, UCL Institute of Child Health, London, UK. [2].
  • Tasseva G; 1] Group on the Molecular and Cell Biology of Lipids, Department of Medicine, University of Alberta, Edmonton, Alberta, Canada. [2].
  • Ishida M; Clinical and Molecular Genetics Unit, University College London (UCL) Institute of Child Health, London, UK.
  • Anderson G; Histopathology Department, Great Ormond Street Hospital for Children, London, UK.
  • Docker J; Neural Development Unit, UCL Institute of Child Health, London, UK.
  • Ryten M; 1] Reta Lila Weston Institute, UCL Institute of Neurology, London, UK. [2] Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
  • Sa J; Serviço de Genética Médica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Saraiva JM; 1] Serviço de Genética Médica, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal. [2] University Clinic of Pediatrics, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
  • Barnicoat A; Clinical Genetics Department, Great Ormond Street Hospital, London, UK.
  • Scott R; Clinical Genetics Department, Great Ormond Street Hospital, London, UK.
  • Calder A; Radiology Department, Great Ormond Street Hospital, London, UK.
  • Wattanasirichaigoon D; Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.
  • Chrzanowska K; Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
  • Simandlová M; Department of Biology and Medical Genetics, University Hospital Motol and Second Faculty of Medicine, Prague, Czech Republic.
  • Van Maldergem L; 1] Centre de Génétique Humaine, Université de Franche-Comté, Besançon, France. [2] Cutis Laxa Study Group, University of Franche-Comté, Besancon, France.
  • Stanier P; Neural Development Unit, UCL Institute of Child Health, London, UK.
  • Beales PL; 1] Molecular Medicine Unit, UCL Institute of Child Health, London, UK. [2] Centre for Translational Genomics-GOSgene, UCL Institute of Child Health, London, UK.
  • Vance JE; Group on the Molecular and Cell Biology of Lipids, Department of Medicine, University of Alberta, Edmonton, Alberta, Canada.
  • Moore GE; Clinical and Molecular Genetics Unit, University College London (UCL) Institute of Child Health, London, UK.
Nat Genet ; 46(1): 70-6, 2014 Jan.
Article en En | MEDLINE | ID: mdl-24241535
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Transferasas de Grupos Nitrogenados / Mutación Límite: Adolescent / Animals / Child / Female / Humans / Male Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Portugal
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Transferasas de Grupos Nitrogenados / Mutación Límite: Adolescent / Animals / Child / Female / Humans / Male Idioma: En Revista: Nat Genet Asunto de la revista: GENETICA MEDICA Año: 2014 Tipo del documento: Article País de afiliación: Portugal