Timal, Sharita ; Hoischen, Alexander 
; Lehle, Ludwig ; Adamowicz, Maciej ; Huijben, Karin ; Sykut-Cegielska, Jolanta ; Paprocka, Justyna ; Jamroz, Ewa ; van Spronsen, Francjan J. ; Körner, Christian ; Gilissen, Christian ; Rodenburg, Richard J. ; Eidhof, Ilse ; Van den Heuvel, Lambert ; Thiel, Christian ; Wevers, Ron A. ; Morava, Eva ; Veltman, Joris ; Lefeber, Dirk J.
; Lehle, Ludwig ; Adamowicz, Maciej ; Huijben, Karin ; Sykut-Cegielska, Jolanta ; Paprocka, Justyna ; Jamroz, Ewa ; van Spronsen, Francjan J. ; Körner, Christian ; Gilissen, Christian ; Rodenburg, Richard J. ; Eidhof, Ilse ; Van den Heuvel, Lambert ; Thiel, Christian ; Wevers, Ron A. ; Morava, Eva ; Veltman, Joris ; Lefeber, Dirk J. Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing
Timal, Sharita, Hoischen, Alexander, Lehle, Ludwig, Adamowicz, Maciej, Huijben, Karin, Sykut-Cegielska, Jolanta, Paprocka, Justyna, Jamroz, Ewa, van Spronsen, Francjan J., Körner, Christian, Gilissen, Christian , Rodenburg, Richard J. , Eidhof, Ilse , Van den Heuvel, Lambert, Thiel, Christian, Wevers, Ron A. , Morava, Eva, Veltman, Joris and Lefeber, Dirk J.
(2012)
Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing.
Human Molecular Genetics 21 (19), pp. 4151-4161.
Date of publication of this fulltext: 19 Dec 2024 09:35
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| Item type | Article | ||||
| Journal or Publication Title | Human Molecular Genetics | ||||
| Publisher: | OXFORD UNIV PRESS | ||||
|---|---|---|---|---|---|
| Place of Publication: | OXFORD | ||||
| Volume: | 21 | ||||
| Number of Issue or Book Chapter: | 19 | ||||
| Page Range: | pp. 4151-4161 | ||||
| Date | 2012 | ||||
| Institutions | Biology, Preclinical Medicine > Institut für Pflanzenwissenschaften > Lehrstuhl für Zellbiologie und Pflanzenphysiologie (Prof. Dr. Klaus Grasser) | ||||
| Identification Number |
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| Keywords | DOLICHOL; DEFICIENCY; MUTATIONS; TRANSFERASE; YEAST; BIOSYNTHESIS; ENZYMES; STEPS; SERUM; CDG; | ||||
| Dewey Decimal Classification | 500 Science > 580 Botanical sciences | ||||
| Status | Published | ||||
| Refereed | Yes, this version has been refereed | ||||
| Created at the University of Regensburg | Yes | ||||
| Item ID | 63303 |
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