Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation
Document Type: | Article |
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Language: | English |
Author: | Damayanti R. Sjarif, Christina Hellerud, Johannes K. Ploos van Amstel, Willem J. Kleijer, Wolfgang Sperl, Didier Lacombe, Jörn Oliver Sass, Frits A. Beemer, Marinus Duran, Bwee Tien Poll-The |
Parent Title (English): | European Journal of Human Genetics |
Volume: | 12 |
Issue: | 6 |
First Page: | 424 |
Last Page: | 432 |
ISSN: | 1018-4813 |
DOI: | https://doi.org/10.1038/sj.ejhg.5201172 |
PMID: | https://pubmed.ncbi.nlm.nih.gov/15026783 |
Publisher: | Nature Publishing Group |
Publication year: | 2004 |
Departments, institutes and facilities: | Institut für funktionale Gen-Analytik (IFGA) |
Dewey Decimal Classification (DDC): | 6 Technik, Medizin, angewandte Wissenschaften / 61 Medizin und Gesundheit / 610 Medizin und Gesundheit |
Entry in this database: | 2018/08/18 |