Functional analysis of novel A20 variants in patients with atypical inflammatory diseases

BACKGROUND: A20 haploinsufficiency (HA20) is an early-onset autoinflammatory disease caused by mutations in the TNFAIP3 gene, which encodes the protein A20. Numerous truncating mutations in the TNFAIP3 gene have been reported in HA20 patients, whereas fewer missense variants have had their pathogeni...

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Detalles Bibliográficos
Autores principales: Kadowaki, Saori, Hashimoto, Kunio, Nishimura, Toyoki, Kashimada, Kenichi, Kadowaki, Tomonori, Kawamoto, Norio, Imai, Kohsuke, Okada, Satoshi, Kanegane, Hirokazu, Ohnishi, Hidenori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7866758/
https://www.ncbi.nlm.nih.gov/pubmed/33549127
http://dx.doi.org/10.1186/s13075-021-02434-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7866758/
https://www.ncbi.nlm.nih.gov/pubmed/33549127
http://dx.doi.org/10.1186/s13075-021-02434-w

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