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Lefeber, Dirk J. ; Schönberger, Johannes ; Morava, Eva ; Guillard, Mailys ; Huyben, Karin M. ; Verrijp, Kiek ; Grafakou, Olga ; Evangeliou, Athanasios ; Preijers, Frank W. ; Manta, Panagiota ; Yildiz, Jef ; Grünewald, Stephanie ; Spilioti, Martha ; van den Elzen, Christa ; Klein, Dominique ; Hess, Daniel ; Ashida, Hisashi ; Hofsteenge, Jan ; Maeda, Yusuke ; van den Heuvel, Lambert ; Lammens, Martin ; Lehle, Ludwig ; Wevers, Ron A.

Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies

Lefeber, Dirk J., Schönberger, Johannes, Morava, Eva, Guillard, Mailys, Huyben, Karin M., Verrijp, Kiek, Grafakou, Olga, Evangeliou, Athanasios, Preijers, Frank W., Manta, Panagiota, Yildiz, Jef, Grünewald, Stephanie, Spilioti, Martha, van den Elzen, Christa, Klein, Dominique, Hess, Daniel, Ashida, Hisashi , Hofsteenge, Jan, Maeda, Yusuke, van den Heuvel, Lambert, Lammens, Martin , Lehle, Ludwig and Wevers, Ron A. (2009) Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies. The American Journal of Human Genetics 85 (1), pp. 76-86.

Date of publication of this fulltext: 19 Dec 2024 12:04
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Item typeArticle
Journal or Publication TitleThe American Journal of Human Genetics
Publisher:CELL PRESS
Place of Publication:CAMBRIDGE
Volume:85
Number of Issue or Book Chapter:1
Page Range:pp. 76-86
Date2009
InstitutionsBiology, Preclinical Medicine > Institut für Pflanzenwissenschaften > Lehrstuhl für Zellbiologie und Pflanzenphysiologie (Prof. Dr. Klaus Grasser)
Identification Number
ValueType
10.1016/j.ajhg.2009.06.006DOI
KeywordsDOLICHOL-PHOSPHATE-MANNOSE; N-LINKED GLYCOSYLATION; SACCHAROMYCES-CEREVISIAE; DEFECTIVE GLYCOSYLATION; GLYCOPROTEIN SYNDROME; MUSCULAR-DYSTROPHIES; MAMMALIAN-CELLS; BIOSYNTHESIS; PROTEIN; GENE;
Dewey Decimal Classification500 Science > 580 Botanical sciences
StatusPublished
RefereedYes, this version has been refereed
Created at the University of RegensburgYes
Item ID67039

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