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Functional characterization of p.Pro409His variant in HNF1A, a hypomorphic mutation involved in pancreatic ß-cell dysfunction.
Nocera, Donatella; Menniti, Miranda; Belviso, Stefania; Bond, Heather Mandy; Lanzillotta, Delia; Spoleti, Cristina Barbara; Guagliardi, Maria Rosaria; Malatesta, Paola; Trapasso, Francesco; Irace, Concetta; Perrotti, Nicola; Iuliano, Rodolfo.
Afiliação
  • Nocera D; Unit of Medical Genetics, University Hospital Mater Domini, Viale T. Campanella, 115, Catanzaro, Italy.
  • Menniti M; Department of Human Health, University Magna Graecia of Catanzaro, Campus S. Venuta, Viale Europa, località Germaneto, 88100, Catanzaro, Italy.
  • Belviso S; Department of Human Health, University Magna Graecia of Catanzaro, Campus S. Venuta, Viale Europa, località Germaneto, 88100, Catanzaro, Italy.
  • Bond HM; Department of Experimental and Clinical Medicine, University Magna Graecia of Catanzaro, Campus S. Venuta, Viale Europa, località Germaneto, 88100, Catanzaro, Italy.
  • Lanzillotta D; Department of Experimental and Clinical Medicine, University Magna Graecia of Catanzaro, Campus S. Venuta, Viale Europa, località Germaneto, 88100, Catanzaro, Italy.
  • Spoleti CB; Department of Human Health, University Magna Graecia of Catanzaro, Campus S. Venuta, Viale Europa, località Germaneto, 88100, Catanzaro, Italy.
  • Guagliardi MR; Unit of Medical Genetics, University Hospital Mater Domini, Viale T. Campanella, 115, Catanzaro, Italy.
  • Malatesta P; Unit of Medical Genetics, University Hospital Mater Domini, Viale T. Campanella, 115, Catanzaro, Italy.
  • Trapasso F; Unit of Medical Genetics, University Hospital Mater Domini, Viale T. Campanella, 115, Catanzaro, Italy.
  • Irace C; Department of Experimental and Clinical Medicine, University Magna Graecia of Catanzaro, Campus S. Venuta, Viale Europa, località Germaneto, 88100, Catanzaro, Italy.
  • Perrotti N; Department of Human Health, University Magna Graecia of Catanzaro, Campus S. Venuta, Viale Europa, località Germaneto, 88100, Catanzaro, Italy.
  • Iuliano R; Unit of Medical Genetics, University Hospital Mater Domini, Viale T. Campanella, 115, Catanzaro, Italy. perrotti@unicz.it.
Acta Diabetol ; 56(8): 883-888, 2019 Aug.
Article em En | MEDLINE | ID: mdl-30963309
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Diabetes Mellitus Tipo 2 / Células Secretoras de Insulina / Fator 1-alfa Nuclear de Hepatócito Limite: Adult / Animals / Female / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Mutação de Sentido Incorreto / Diabetes Mellitus Tipo 2 / Células Secretoras de Insulina / Fator 1-alfa Nuclear de Hepatócito Limite: Adult / Animals / Female / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article