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Taking the next step forward – Diagnosing inherited infantile cholestatic disorders with next generation sequencing
Herbst, S.M., Schirmer, S., Posovszky, C.
, Jochum, F., Rödl, T., Schroeder, J.A., Barth, T.F., Hehr, U., Melter, M. and Vermehren, J.
(2015)
Taking the next step forward – Diagnosing inherited infantile cholestatic disorders with next generation sequencing.
Molecular and Cellular Probes 29 (5), pp. 291-298.
Date of publication of this fulltext: 19 Dec 2024 07:23
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| Item type | Article | ||||
| Journal or Publication Title | Molecular and Cellular Probes | ||||
| Publisher: | ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD | ||||
|---|---|---|---|---|---|
| Place of Publication: | LONDON | ||||
| Volume: | 29 | ||||
| Number of Issue or Book Chapter: | 5 | ||||
| Page Range: | pp. 291-298 | ||||
| Date | 2015 | ||||
| Institutions | Medicine > Lehrstuhl für Humangenetik Medicine > Lehrstuhl für Kinder- und Jugendmedizin Medicine > Lehrstuhl für Pathologie | ||||
| Identification Number |
| ||||
| Keywords | KIDNEY-DISEASE ARPKD; FAMILIAL INTRAHEPATIC CHOLESTASIS; PICK-C-DISEASE; LIVER-TRANSPLANTATION; BILIARY DIVERSION; PKHD1 MUTATIONS; GENE-MUTATIONS; NPC1; PATHOPHYSIOLOGY; IDENTIFICATION; Next generation sequencing; Infantile cholestasis; PFIC; Niemann-Pick-syndrome; PKHD1; Hepatic fibrosis; Massive parallel sequencing | ||||
| Dewey Decimal Classification | 600 Technology > 610 Medical sciences Medicine | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 60034 |
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