Autor: "Chrzanowska K" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome.
Autorzy:: 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.; Pokaż więcej
Źródło:: Nature genetics [Nat Genet] 2014 Jan; Vol. 46 (1), pp. 70-6. Date of Electronic Publication: 2013 Nov 17.
Typ publikacji:: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:: Mutation*
Abnormalities, Multiple/*genetics
Nitrogenous Group Transferases/*genetics
Adolescent ; Animals ; Cells, Cultured ; Child ; Dwarfism ; Embryo, Nonmammalian ; Female ; Fibroblasts/metabolism ; Humans ; Hyperostosis ; Male ; Molecular Sequence Data ; Nitrogenous Group Transferases/metabolism ; Phosphatidylserines/biosynthesis ; Phosphatidylserines/genetics ; Syndrome ; Zebrafish/embryology ; Zebrafish/genetics