Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation
| Author: | Florian Hoffmann, Peter Lohse, Silvia Stojanov, Yoon S. Shin, Ellen RennerORCiDGND, Anja Kéry, Stephanie Zellerer, Bernd H. Belohradsky |
|---|---|
| Frontdoor URL | https://opus.bibliothek.uni-augsburg.de/opus4/110885 |
| ISSN: | 1018-4813OPAC |
| ISSN: | 1476-5438OPAC |
| Parent Title (English): | European Journal of Human Genetics |
| Publisher: | Springer Science and Business Media LLC |
| Place of publication: | New York, NY |
| Type: | Article |
| Language: | English |
| Year of first Publication: | 2004 |
| Publishing Institution: | Universität Augsburg |
| Release Date: | 2024/01/29 |
| Tag: | Genetics; Genetics (clinical) |
| Volume: | 13 |
| Issue: | 4 |
| First Page: | 510 |
| Last Page: | 512 |
| DOI: | https://doi.org/10.1038/sj.ejhg.5201352 |
| Institutes: | Medizinische Fakultät |
| Medizinische Fakultät / Universitätsklinikum | |
| Medizinische Fakultät / Professur für Translationale Immunologie |
