Taking the next step forward - Diagnosing inherited infantile cholestatic disorders with next generation sequencing

Erstveröffentlichung
2015
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Wissenschaftlicher Artikel


Authors
Herbst, S. M.
Schirmer, S.
Posovszky, C.
Jochum, F.
Roedl, T.
et al.
Institutions
UKU. Klinik für Kinder- und Jugendmedizin
UKU. Institut für Pathologie
Published in
Molecular and Cellular Probes ; 29 (2015), 5, SI. - S. 291-298. - ISSN 0890-8508
Link to publication
https://dx.doi.org/10.1016/j.mcp.2015.03.001
Keywords
Next generation sequencing; Infantile cholestasis; PFIC; Niemann-Pick-syndrome; PKHD1; Hepatic fibrosis; Massive parallel sequencing; KIDNEY-DISEASE ARPKD; FAMILIAL INTRAHEPATIC CHOLESTASIS; PICK-C-DISEASE; LIVER-TRANSPLANTATION; BILIARY DIVERSION; PKHD1 MUTATIONS; GENE-MUTATIONS; NPC1; PATHOPHYSIOLOGY; IDENTIFICATION
Dewey Decimal Group
DDC 570 / Life sciences
DDC 610 / Medicine & health
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