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