التفاصيل البيبلوغرافية
| العنوان: |
Genetic and phenotypic spectrum associated with IFIH1 gain-of-function |
| المؤلفون: |
Rice, G. I., Park, S., Gavazzi, F., Adang, L. A., Ayuk, L. A., Van Eyck, L., Seabra, L., Barrea, C., Battini, R., Belot, A., Berg, S., de Villemeur, T. B., Bley, A. E., Blumkin, L., Boespflug-Tanguy, O., Briggs, T. A., Brimble, E., Dale, R. C., Darin, Niklas, 1964, Debray, F. G., De Giorgis, V., Denecke, J., Doummar, D., af Hagelsrum, G. D., Eleftheriou, D., Estienne, M., Fazzi, E., Feillet, F., Galli, J., Hartog, N., Harvengt, J., Heron, B., Heron, D., Kelly, D. A., Lev, D., Levrat, V., Livingston, J. H., Marti, I., Mignot, C., Mochel, F., Nougues, M. C., Oppermann, I., Perez-Duenas, B., Popp, B., Rodero, M. P., Rodriguez, D., Saletti, V., Sharpe, C., Tonduti, D., Vadlamani, G., Van Haren, K., Vila, M. T., Vogt, J., Wassmer, E., Wiedemann, A., Wilson, C. J., Zerem, A., Zweier, C., Zuberi, S. M., Orcesi, S., Vanderver, A. L., Hur, S., Crow, Y. J. |
| المصدر: |
Human Mutation. 41(4):837-49 |
| مصطلحات موضوعية: |
Clinical Medicine, Klinisk medicin, Aicardi-Goutieres syndrome, IFIH1, MDA5, Singleton Merten syndrome, Type, I interferonopathy, aicardi-goutieres syndrome, singleton-merten syndrome, function, mutation, disease, Genetics & Heredity |
| الوصف: |
IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a |
| URL الوصول: |
https://gup.ub.gu.se/publication/290882 |
| قاعدة البيانات: |
SwePub |
