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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function
- Rice, G. I. (author)
- Park, S. (author)
- Gavazzi, F. (author)
- show more...
- Adang, L. A. (author)
- Ayuk, L. A. (author)
- Van Eyck, L. (author)
- Seabra, L. (author)
- Barrea, C. (author)
- Battini, R. (author)
- Belot, A. (author)
- Berg, S. (author)
- de Villemeur, T. B. (author)
- Bley, A. E. (author)
- Blumkin, L. (author)
- Boespflug-Tanguy, O. (author)
- Briggs, T. A. (author)
- Brimble, E. (author)
- Dale, R. C. (author)
- Debray, F. G. (author)
- De Giorgis, V. (author)
- Denecke, J. (author)
- Doummar, D. (author)
- af Hagelsrum, G. D. (author)
- Eleftheriou, D. (author)
- Estienne, M. (author)
- Fazzi, E. (author)
- Feillet, F. (author)
- Galli, J. (author)
- Hartog, N. (author)
- Harvengt, J. (author)
- Heron, B. (author)
- Heron, D. (author)
- Kelly, D. A. (author)
- Lev, D. (author)
- Levrat, V. (author)
- Livingston, J. H. (author)
- Marti, I. (author)
- Mignot, C. (author)
- Mochel, F. (author)
- Nougues, M. C. (author)
- Oppermann, I. (author)
- Perez-Duenas, B. (author)
- Popp, B. (author)
- Rodero, M. P. (author)
- Rodriguez, D. (author)
- Saletti, V. (author)
- Sharpe, C. (author)
- Tonduti, D. (author)
- Vadlamani, G. (author)
- Van Haren, K. (author)
- Vila, M. T. (author)
- Vogt, J. (author)
- Wassmer, E. (author)
- Wiedemann, A. (author)
- Wilson, C. J. (author)
- Zerem, A. (author)
- Zweier, C. (author)
- Zuberi, S. M. (author)
- Orcesi, S. (author)
- Vanderver, A. L. (author)
- Hur, S. (author)
- Crow, Y. J. (author)
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- (creator_code:org_t)
- 2020-01-14
- 2020
- English.
- In: Human Mutation. - : Hindawi Limited. - 1059-7794 .- 1098-1004. ; 41:4, s. 837-49
- Journal article (peer-reviewed)
Abstract
Subject headings
Close
- IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
Keyword
- Aicardi-Goutieres syndrome
- IFIH1
- MDA5
- Singleton Merten syndrome
- Type
- I interferonopathy
- aicardi-goutieres syndrome
- singleton-merten syndrome
- function
- mutation
- disease
- Genetics & Heredity
Publication and Content Type
- ref (subject category)
- art (subject category)
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- Human Mutation (Search for host publication in LIBRIS)
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- By the author/editor
- Rice, G. I.
- Park, S.
- Gavazzi, F.
- Adang, L. A.
- Ayuk, L. A.
- Van Eyck, L.
- show more...
- Seabra, L.
- Barrea, C.
- Battini, R.
- Belot, A.
- Berg, S.
- de Villemeur, T. ...
- Bley, A. E.
- Blumkin, L.
- Boespflug-Tanguy ...
- Briggs, T. A.
- Brimble, E.
- Dale, R. C.
- Darin, Niklas, 1 ...
- Debray, F. G.
- De Giorgis, V.
- Denecke, J.
- Doummar, D.
- af Hagelsrum, G. ...
- 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.
- show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Clinical Medicin ...
- Articles in the publication
- Human Mutation
- By the university
- University of Gothenburg
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