A novel phenotype of a hepatocyte nuclear factor homeobox A (HNF1A) gene mutation, presenting with neonatal cholestasis.

Autor: 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.
Jazyk: angličtina
Zdroj: Journal of hepatology [J Hepatol] 2015 Nov; Vol. 63 (5), pp. 1295-7. Date of Electronic Publication: 2015 Aug 22.
DOI: 10.1016/j.jhep.2015.08.005
Databáze: MEDLINE