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Mutations disrupting the Kennedy phosphatidylcholine pathway in humans with congenital lipodystrophy and fatty liver disease.
Payne, Felicity; Lim, Koini; Girousse, Amandine; Brown, Rebecca J; Kory, Nora; Robbins, Ann; Xue, Yali; Sleigh, Alison; Cochran, Elaine; Adams, Claire; Dev Borman, Arundhati; Russel-Jones, David; Gorden, Phillip; Semple, Robert K; Saudek, Vladimir; O'Rahilly, Stephen; Walther, Tobias C; Barroso, Inês; Savage, David B.
Afiliación
  • Payne F; Metabolic Disease Group, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, United Kingdom;
  • Lim K; University of Cambridge, Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Cambridge CB2 0QQ, United Kingdom;
  • Girousse A; University of Cambridge, Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Cambridge CB2 0QQ, United Kingdom;
  • Brown RJ; Diabetes Endocrinology and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892;
  • Kory N; Department of Cell Biology, School of Medicine, Yale University, New Haven, CT 06520;
  • Robbins A; University of Cambridge, Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Cambridge CB2 0QQ, United Kingdom;
  • Xue Y; Metabolic Disease Group, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, United Kingdom;
  • Sleigh A; Wolfson Brain Imaging Centre, University of Cambridge, Cambridge CB2 0QQ, United Kingdom;
  • Cochran E; Diabetes Endocrinology and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892;
  • Adams C; University of Cambridge, Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Cambridge CB2 0QQ, United Kingdom;
  • Dev Borman A; Moorfields Eye Hospital National Health Service Trust, London EC1V 2PD, United Kingdom; and.
  • Russel-Jones D; Centre for Endocrinology, Diabetes and Research, Royal Surrey County Hospital, Guildford GU2 7XX, United Kingdom.
  • Gorden P; Diabetes Endocrinology and Obesity Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892;
  • Semple RK; University of Cambridge, Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Cambridge CB2 0QQ, United Kingdom;
  • Saudek V; University of Cambridge, Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Cambridge CB2 0QQ, United Kingdom;
  • O'Rahilly S; University of Cambridge, Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Cambridge CB2 0QQ, United Kingdom; so104@medschl.cam.ac.uk ib1@sanger.ac.uk dbs23@medschl.cam.ac.uk.
  • Walther TC; Department of Cell Biology, School of Medicine, Yale University, New Haven, CT 06520;
  • Barroso I; Metabolic Disease Group, The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, United Kingdom;University of Cambridge, Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Cambridge CB2 0QQ, United Kingdom; so104@me
  • Savage DB; University of Cambridge, Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Cambridge CB2 0QQ, United Kingdom; so104@medschl.cam.ac.uk ib1@sanger.ac.uk dbs23@medschl.cam.ac.uk.
Proc Natl Acad Sci U S A ; 111(24): 8901-6, 2014 Jun 17.
Article en En | MEDLINE | ID: mdl-24889630
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fosfatidilcolinas / Citidililtransferasa de Colina-Fosfato / Hígado Graso / Lipodistrofia Tipo de estudio: Prognostic_studies Límite: Adolescent / Animals / Child / Female / Humans Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2014 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Fosfatidilcolinas / Citidililtransferasa de Colina-Fosfato / Hígado Graso / Lipodistrofia Tipo de estudio: Prognostic_studies Límite: Adolescent / Animals / Child / Female / Humans Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2014 Tipo del documento: Article