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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Pubblicato in:Arthritis Res Ther
Autori principali: Kadowaki, Saori, Hashimoto, Kunio, Nishimura, Toyoki, Kashimada, Kenichi, Kadowaki, Tomonori, Kawamoto, Norio, Imai, Kohsuke, Okada, Satoshi, Kanegane, Hirokazu, Ohnishi, Hidenori
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2021
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7866758/
https://ncbi.nlm.nih.gov/pubmed/33549127
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13075-021-02434-w
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