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MAFA missense mutation causes familial insulinomatosis and diabetes mellitus.
Iacovazzo, Donato; Flanagan, Sarah E; Walker, Emily; Quezado, Rosana; de Sousa Barros, Fernando Antonio; Caswell, Richard; Johnson, Matthew B; Wakeling, Matthew; Brändle, Michael; Guo, Min; Dang, Mary N; Gabrovska, Plamena; Niederle, Bruno; Christ, Emanuel; Jenni, Stefan; Sipos, Bence; Nieser, Maike; Frilling, Andrea; Dhatariya, Ketan; Chanson, Philippe; de Herder, Wouter W; Konukiewitz, Björn; Klöppel, Günter; Stein, Roland; Korbonits, Márta; Ellard, Sian.
Afiliación
  • Iacovazzo D; Centre for Endocrinology, Barts and The London School of Medicine, Queen Mary University of London, EC1M 6BQ London, United Kingdom.
  • Flanagan SE; Institute of Biomedical and Clinical Science, University of Exeter Medical School, EX2 5DW Exeter, United Kingdom.
  • Walker E; Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37232.
  • Quezado R; Serviço de Endocrinologia e Diabetes, Hospital Universitário Walter Cantídio, Universidade Federal do Ceará, 60430-372 Fortaleza, Brazil.
  • de Sousa Barros FA; Serviço de Endocrinologia e Diabetes, Hospital Universitário Walter Cantídio, Universidade Federal do Ceará, 60430-372 Fortaleza, Brazil.
  • Caswell R; Institute of Biomedical and Clinical Science, University of Exeter Medical School, EX2 5DW Exeter, United Kingdom.
  • Johnson MB; Institute of Biomedical and Clinical Science, University of Exeter Medical School, EX2 5DW Exeter, United Kingdom.
  • Wakeling M; Institute of Biomedical and Clinical Science, University of Exeter Medical School, EX2 5DW Exeter, United Kingdom.
  • Brändle M; Division of Endocrinology and Diabetes, Department of Internal Medicine, Kantonsspital St. Gallen, CH-9007 St. Gallen, Switzerland.
  • Guo M; Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37232.
  • Dang MN; Centre for Endocrinology, Barts and The London School of Medicine, Queen Mary University of London, EC1M 6BQ London, United Kingdom.
  • Gabrovska P; Centre for Endocrinology, Barts and The London School of Medicine, Queen Mary University of London, EC1M 6BQ London, United Kingdom.
  • Niederle B; Section of Endocrine Surgery, Division of General Surgery, Department of Surgery, University of Vienna, A-1090 Vienna, Austria.
  • Christ E; Division of Diabetes, Endocrinology and Metabolism, University Hospital of Basel, CH-4031 Basel, Switzerland.
  • Jenni S; Division of Endocrinology, Diabetes and Clinical Nutrition, University Hospital of Bern, Inselspital, CH-3010 Bern, Switzerland.
  • Sipos B; Department of Pathology, University of Tübingen, 72076 Tübingen, Germany.
  • Nieser M; Department of Pathology, University of Tübingen, 72076 Tübingen, Germany.
  • Frilling A; Department of Surgery and Cancer, Imperial College London, W12 0HS London, United Kingdom.
  • Dhatariya K; Elsie Bertram Diabetes Centre, Norfolk and Norwich University Hospitals NHS Foundation Trust, NR4 7UY Norwich, United Kingdom.
  • Chanson P; Service d'Endocrinologie et des Maladies de la Reproduction, Assistance Publique-Hôpitaux de Paris, Hôpital de Bicêtre, F-94275 Le Kremlin-Bicêtre, France.
  • de Herder WW; INSERM 1185, Faculté de Médicine Paris Sud, Université Paris-Saclay, F-94276 Le Kremlin-Bicêtre, France.
  • Konukiewitz B; Department of Internal Medicine, Sector of Endocrinology, ENETS Centre of Excellence for Neuroendocrine Tumors, Erasmus MC, 3015 Rotterdam, The Netherlands.
  • Klöppel G; Department of Pathology, Consultation Center for Pancreatic and Endocrine Tumors, Technical University of Munich, 81675 Munich, Germany.
  • Stein R; Department of Pathology, Consultation Center for Pancreatic and Endocrine Tumors, Technical University of Munich, 81675 Munich, Germany.
  • Korbonits M; Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, TN 37232.
  • Ellard S; Centre for Endocrinology, Barts and The London School of Medicine, Queen Mary University of London, EC1M 6BQ London, United Kingdom; m.korbonits@qmul.ac.uk.
Proc Natl Acad Sci U S A ; 115(5): 1027-1032, 2018 01 30.
Article en En | MEDLINE | ID: mdl-29339498
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neoplasias Pancreáticas / Tumores Neuroendocrinos / Mutación Missense / Diabetes Mellitus / Factores de Transcripción Maf de Gran Tamaño / Proteínas Mutantes / Hiperinsulinismo / Insulinoma Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido
Texto completo
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XML
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Neoplasias Pancreáticas / Tumores Neuroendocrinos / Mutación Missense / Diabetes Mellitus / Factores de Transcripción Maf de Gran Tamaño / Proteínas Mutantes / Hiperinsulinismo / Insulinoma Tipo de estudio: Etiology_studies / Prognostic_studies Límite: Female / Humans / Male Idioma: En Revista: Proc Natl Acad Sci U S A Año: 2018 Tipo del documento: Article País de afiliación: Reino Unido