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De Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction.
De Franco, Elisa; Caswell, Richard; Johnson, Matthew B; Wakeling, Matthew N; Zung, Amnon; Dung, Vu Chí; Bích Ngoc, Can Thi; Goonetilleke, Rajiv; Vivanco Jury, Maritza; El-Khateeb, Mohammed; Ellard, Sian; Flanagan, Sarah E; Ron, David; Hattersley, Andrew T.
Afiliação
  • De Franco E; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K. e.de-franco@exeter.ac.uk.
  • Caswell R; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.
  • Johnson MB; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.
  • Wakeling MN; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.
  • Zung A; Pediatric Endocrinology Unit, Kaplan Medical Center, The Hebrew University of Jerusalem, Rehovot, Israel.
  • Dung VC; Vietnam National Children's Hospital, Hanoi, Vietnam.
  • Bích Ngoc CT; Vietnam National Children's Hospital, Hanoi, Vietnam.
  • Goonetilleke R; Hinchingbrooke Hospital, Huntingdon, U.K.
  • Vivanco Jury M; Hospital Roberto del Río, Universidad de Chile, Santiago, Chile.
  • El-Khateeb M; National Center for Diabetes Endocrinology and Genetics, Amman, Jordan.
  • Ellard S; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.
  • Flanagan SE; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.
  • Ron D; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, U.K.
  • Hattersley AT; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.
Diabetes ; 69(3): 477-483, 2020 03.
Article em En | MEDLINE | ID: mdl-31882561
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fator de Iniciação 2B em Eucariotos / Diabetes Mellitus / Hepatopatias Tipo de estudo: Prognostic_studies Limite: Adolescent / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Diabetes Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fator de Iniciação 2B em Eucariotos / Diabetes Mellitus / Hepatopatias Tipo de estudo: Prognostic_studies Limite: Adolescent / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Diabetes Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Reino Unido País de publicação: Estados Unidos