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Update of variants identified in the pancreatic ß-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
De Franco, Elisa; Saint-Martin, Cécile; Brusgaard, Klaus; Knight Johnson, Amy E; Aguilar-Bryan, Lydia; Bowman, Pamela; Arnoux, Jean-Baptiste; Larsen, Annette Rønholt; Sanyoura, May; Greeley, Siri Atma W; Calzada-León, Raúl; Harman, Bradley; Houghton, Jayne A L; Nishimura-Meguro, Elisa; Laver, Thomas W; Ellard, Sian; Del Gaudio, Daniela; Christesen, Henrik Thybo; Bellanné-Chantelot, Christine; Flanagan, Sarah E.
Afiliação
  • De Franco E; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Saint-Martin C; Department of Genetics, Pitié-Salpêtrière Hospital, AP-HP, Sorbonne University, Paris, France.
  • Brusgaard K; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.
  • Knight Johnson AE; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois.
  • Aguilar-Bryan L; Pacific Northwest Research Institute, Seattle, Washington.
  • Bowman P; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Arnoux JB; Reference Center for Inherited Metabolic Diseases, Necker-Enfants Malades Hospital, Paris, France.
  • Larsen AR; Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
  • Sanyoura M; Section of Adult and Pediatric Endocrinology, Diabetes, and Metabolism, Kovler Diabetes Center, University of Chicago, Chicago, Illinois.
  • Greeley SAW; Section of Adult and Pediatric Endocrinology, Diabetes, and Metabolism, Kovler Diabetes Center, University of Chicago, Chicago, Illinois.
  • Calzada-León R; Pediatric Endocrinology, Endocrine Service, National Institute for Pediatrics, Mexico City, Mexico.
  • Harman B; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Houghton JAL; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Nishimura-Meguro E; Department of Pediatric Endocrinology, Children's Hospital, National Medical Center XXI Century, Instituto Mexicano del Seguro Social, Mexico City, Mexico.
  • Laver TW; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Ellard S; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Del Gaudio D; Department of Molecular Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Christesen HT; Department of Human Genetics, University of Chicago Genetic Services Laboratory, The University of Chicago, Chicago, Illinois.
  • Bellanné-Chantelot C; Hans Christian Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
  • Flanagan SE; Odense Pancreas Center, Odense University Hospital, Odense, Denmark.
Hum Mutat ; 41(5): 884-905, 2020 05.
Article em En | MEDLINE | ID: mdl-32027066
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Canais de Potássio Corretores do Fluxo de Internalização / Hiperinsulinismo Congênito / Diabetes Mellitus / Células Secretoras de Insulina / Receptores de Sulfonilureias / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Newborn Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Canais de Potássio Corretores do Fluxo de Internalização / Hiperinsulinismo Congênito / Diabetes Mellitus / Células Secretoras de Insulina / Receptores de Sulfonilureias / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans / Newborn Idioma: En Ano de publicação: 2020 Tipo de documento: Article