MDA5 gain-of-function associated with a Glu794del mutation.

Autor: Wong C; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Gerasimavicius L; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Crow YJ; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK. yanickcrow@mac.com.; Laboratory of Neurogenetics and Neuroinflammation, Institute Imagine, Paris, France. yanickcrow@mac.com., Uggenti C; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Jazyk: angličtina
Zdroj: Journal of clinical immunology [J Clin Immunol] 2024 Oct 02; Vol. 45 (1), pp. 20. Date of Electronic Publication: 2024 Oct 02.
DOI: 10.1007/s10875-024-01813-7
Databáze: MEDLINE
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