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Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism.
Wakeling, Matthew N; Owens, Nick D L; Hopkinson, Jessica R; Johnson, Matthew B; Houghton, Jayne A L; Dastamani, Antonia; Flaxman, Christine S; Wyatt, Rebecca C; Hewat, Thomas I; Hopkins, Jasmin J; Laver, Thomas W; van Heugten, Rachel; Weedon, Michael N; De Franco, Elisa; Patel, Kashyap A; Ellard, Sian; Morgan, Noel G; Cheesman, Edmund; Banerjee, Indraneel; Hattersley, Andrew T; Dunne, Mark J; Richardson, Sarah J; Flanagan, Sarah E.
Afiliação
  • Wakeling MN; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Owens NDL; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Hopkinson JR; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Johnson MB; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Houghton JAL; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Dastamani A; Endocrinology Department, Great Ormond Street Hospital for Children, London, UK.
  • Flaxman CS; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Wyatt RC; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Hewat TI; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Hopkins JJ; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Laver TW; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • van Heugten R; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Weedon MN; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • De Franco E; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Patel KA; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Ellard S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Morgan NG; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Cheesman E; Department of Paediatric Pathology, Royal Manchester Children's Hospital, Manchester, UK.
  • Banerjee I; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK.
  • Hattersley AT; Faculty of Biology, Medicine and Health, the University of Manchester, Manchester, UK.
  • Dunne MJ; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • Flanagan SE; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
Nat Genet ; 54(11): 1615-1620, 2022 11.
Article em En | MEDLINE | ID: mdl-36333503
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hiperinsulinismo Congênito / Células Secretoras de Insulina Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Hiperinsulinismo Congênito / Células Secretoras de Insulina Idioma: En Ano de publicação: 2022 Tipo de documento: Article