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2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene

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Metadaten
Document Type:Article
Language:English
Author:Rob Ofman, Jos P. N. Ruiter, Marike Feenstra, Marinus Duran, Bwee Tien Poll-The, Johannes Zschocke, Regina Ensenauer, Willy Lehnert, Jörn Oliver Sass, Wolfgang Sperl, Ronald J. A. Wanders
Parent Title (English):The American Journal of Human Genetics
Volume:72
Issue:5
First Page:1300
Last Page:1307
ISSN:0002-9297
URL:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1180283/
DOI:https://doi.org/10.1086/375116
PMID:https://pubmed.ncbi.nlm.nih.gov/12696021
Publisher:American Society of Human Genetics
Date of first publication:2003/04/14
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