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A Novel APOC2 Missense Mutation Causing Apolipoprotein C-II Deficiency With Severe Triglyceridemia and Pancreatitis.
Ueda, Masako; Dunbar, Richard L; Wolska, Anna; Sikora, Tracey U; Escobar, Maria Del Rosario; Seliktar, Naomi; deGoma, Emil; DerOhannessian, Stephanie; Morrell, Linda; McIntyre, Adam D; Burke, Frances; Sviridov, Denis; Amar, Marcelo; Shamburek, Robert D; Freeman, Lita; Hegele, Robert A; Remaley, Alan T; Rader, Daniel J.
Afiliación
  • Ueda M; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania 19104.
  • Dunbar RL; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania 19104.
  • Wolska A; Lipoprotein Metabolism Section, Cardio-Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20894.
  • Sikora TU; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania 19104.
  • Escobar MDR; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania 19104.
  • Seliktar N; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania 19104.
  • deGoma E; Akebia Therapeutics, Cambridge, Massachusetts 02142.
  • DerOhannessian S; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania 19104.
  • Morrell L; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania 19104.
  • McIntyre AD; Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, Western University, London, Ontario N6A 5B7, Canada.
  • Burke F; Division of Cardiovascular Medicine, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania 19104.
  • Sviridov D; Lipoprotein Metabolism Section, Cardio-Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20894.
  • Amar M; Lipoprotein Metabolism Section, Cardio-Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20894.
  • Shamburek RD; Lipoprotein Metabolism Section, Cardio-Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20894.
  • Freeman L; Lipoprotein Metabolism Section, Cardio-Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20894.
  • Hegele RA; Blackburn Cardiovascular Genetics Laboratory, Robarts Research Institute, Western University, London, Ontario N6A 5B7, Canada.
  • Remaley AT; Lipoprotein Metabolism Section, Cardio-Pulmonary Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Maryland 20894.
  • Rader DJ; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania 19104.
J Clin Endocrinol Metab ; 102(5): 1454-1457, 2017 05 01.
Article en En | MEDLINE | ID: mdl-28201738

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Pancreatitis / Hipertrigliceridemia / Mutación Missense / Apolipoproteína C-II / Hiperlipoproteinemia Tipo I Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adult / Humans / Male Idioma: En Revista: J Clin Endocrinol Metab Año: 2017 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Pancreatitis / Hipertrigliceridemia / Mutación Missense / Apolipoproteína C-II / Hiperlipoproteinemia Tipo I Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Adult / Humans / Male Idioma: En Revista: J Clin Endocrinol Metab Año: 2017 Tipo del documento: Article