Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
4164552 | The Journal of Pediatrics | 2016 | 11 Pages |
Abstract
Targeted NGS can be used for molecular genetic diagnosis in subjects with NIIC. Clinical diagnosis should be accordingly redefined in the view of molecular genetic findings.
Keywords
GGTT.BilDJSPFICBRICALGSNeonatal intrahepatic cholestasis caused by citrin deficiencyNICCDMLPACNVNGSMAFALTASTAspartate aminotransferaseAlanine aminotransferaseDirect bilirubinNext-generation sequencingmultiplex ligation-dependent probe amplificationcopy number variationAlagille syndromeDubin-Johnson syndromeminor allele frequencytotal bilirubinBenign recurrent intrahepatic cholestasisProgressive familial intrahepatic cholestasisGamma glutamyl transpeptidase
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Authors
Takao MD, Tokio MD, PhD, Koichi MD, PhD, Takeshi MD, PhD, Kohei MD, Kei MD, Yutaka MD, Toyoichiro MD, PhD, Reiko MD, PhD, Atsuo MD, PhD, Natsuko MD, PhD, Shigeo MD, PhD, Shinji MD, PhD,