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 Renner, Anja Kéry, Stephanie Zellerer, Bernd H. Belohradsky |
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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 |
Release Date: | 2024/01/29 |
Tag: | Genetics (clinical); Genetics |
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 |