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Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.
Loveday, Chey; Tatton-Brown, Katrina; Clarke, Matthew; Westwood, Isaac; Renwick, Anthony; Ramsay, Emma; Nemeth, Andrea; Campbell, Jennifer; Joss, Shelagh; Gardner, McKinlay; Zachariou, Anna; Elliott, Anna; Ruark, Elise; van Montfort, Rob; Rahman, Nazneen.
  • Loveday C; Division of Genetics and Epidemiology.
  • Tatton-Brown K; Division of Genetics and Epidemiology, Medical Genetics Unit, St George's University of London, London, UK, Cancer Genetics Unit, Royal Marsden Hospital, London, UK.
  • Clarke M; Division of Genetics and Epidemiology.
  • Westwood I; Cancer Research UK Cancer Therapeutics Unit and Division of Structural Biology, Institute of Cancer Research, London, UK.
  • Renwick A; Division of Genetics and Epidemiology.
  • Ramsay E; Division of Genetics and Epidemiology.
  • Nemeth A; Department of Clinical Genetics, Churchill Hospital, Oxford, UK.
  • Campbell J; Institute of Genetic Medicine, International Centre for Life, Newcastle University, Newcastle upon Tyne, UK.
  • Joss S; West of Scotland Genetic Services, Southern General Hospital, Scotland, UK, Yorkshire Regional Clinical Genetics Service, Chapel Allerton Hospital, Leeds, UK and.
  • Gardner M; Genetic Health Service New Zealand, Wellington Hospital, Wellington, NZ.
  • Zachariou A; Division of Genetics and Epidemiology.
  • Elliott A; Division of Genetics and Epidemiology.
  • Ruark E; Division of Genetics and Epidemiology.
  • van Montfort R; Cancer Research UK Cancer Therapeutics Unit and Division of Structural Biology, Institute of Cancer Research, London, UK.
  • Rahman N; Division of Genetics and Epidemiology, Cancer Genetics Unit, Royal Marsden Hospital, London, UK, rahmanlab@icr.ac.uk.
Hum Mol Genet ; 24(17): 4775-9, 2015 09 01.
Article en En | MEDLINE | ID: mdl-25972378
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteína Fosfatasa 2 / Estudios de Asociación Genética / Trastornos del Crecimiento / Proteínas de la Membrana / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Año: 2015 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Proteína Fosfatasa 2 / Estudios de Asociación Genética / Trastornos del Crecimiento / Proteínas de la Membrana / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Año: 2015 Tipo del documento: Article