[Analysis of SLC25A13 gene mutations in five infants with neonatal intrahepatic cholestasis caused by citrin deficiency].

Abstract

OBJECTIVE To identify potential mutations in five infants with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). METHODS The SLC25A13 gene was analyzed by next-generation sequencing. Suspected mutations were confirmed by PCR and Sanger sequencing in the probands and their parents. Impact of novel mutations was predicted with PolyPhen-2… (More)
DOI: 10.3760/cma.j.issn.1003-9406.2018.01.007

Topics

  • Presentations referencing similar topics