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A novel phenotype of a hepatocyte nuclear factor homeobox A (HNF1A) gene mutation, presenting with neonatal cholestasis.
de Vries, Aleida G M; Bakker-van Waarde, Willie M; Dassel, Anne C M; Losekoot, Monique; Duiker, Evelien W; Gouw, Annette S H; Bodewes, Frank A J A.
Afiliação
  • de Vries AG; Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
  • Bakker-van Waarde WM; Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
  • Dassel AC; Department of Pediatrics, Deventer Hospital, Deventer, The Netherlands.
  • Losekoot M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
  • Duiker EW; Department of Pathology and Laboratory Medicine, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
  • Gouw AS; Department of Pathology and Laboratory Medicine, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands.
  • Bodewes FA; Department of Pediatrics, Beatrix Children's Hospital, University Medical Centre Groningen, University of Groningen, Groningen, The Netherlands. Electronic address: f.a.j.a.bodewes@umcg.nl.
J Hepatol ; 63(5): 1295-7, 2015 Nov.
Article em En | MEDLINE | ID: mdl-26307397
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA / Colestase / Fator 1-alfa Nuclear de Hepatócito / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Newborn Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: DNA / Colestase / Fator 1-alfa Nuclear de Hepatócito / Mutação Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Female / Humans / Newborn Idioma: En Ano de publicação: 2015 Tipo de documento: Article