Case Report: Aicardi-Goutières Syndrome and Singleton-Merten Syndrome Caused by a Gain-of-Function Mutation in IFIH1

The IFIH1 gene encodes melanoma differentiation-associated gene 5 (MDA5) and has been associated with Aicardi-Goutières syndrome (AGS), Singleton-Merten syndrome (SMS), and other autoimmune diseases. The mechanisms responsible for how a functional change in a single gene can cause so many different...

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Detalles Bibliográficos
Autores principales: Xiao, Wei, Feng, Jie, Long, Hongyu, Xiao, Bo, Luo, Zhaohui H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8155672/
https://www.ncbi.nlm.nih.gov/pubmed/34054923
http://dx.doi.org/10.3389/fgene.2021.660953

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8155672/
https://www.ncbi.nlm.nih.gov/pubmed/34054923
http://dx.doi.org/10.3389/fgene.2021.660953

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