Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing

Article ID	Journal	Published Year	Pages	File Type
4164552	The Journal of Pediatrics	2016	11 Pages	PDF

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

GGT T.Bil DJS PFIC BRIC ALGS Neonatal intrahepatic cholestasis caused by citrin deficiency NICCD MLPA CNV NGS MAF ALT AST Aspartate aminotransferase Alanine aminotransferase Direct bilirubin Next-generation sequencing multiplex ligation-dependent probe amplification copy number variation Alagille syndrome Dubin-Johnson syndrome minor allele frequency total bilirubin Benign recurrent intrahepatic cholestasis Progressive familial intrahepatic cholestasis Gamma glutamyl transpeptidase

Related Topics

Health Sciences Medicine and Dentistry Perinatology, Pediatrics and Child Health

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Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing

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,