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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Arthritis Res Ther
Päätekijät: Kadowaki, Saori, Hashimoto, Kunio, Nishimura, Toyoki, Kashimada, Kenichi, Kadowaki, Tomonori, Kawamoto, Norio, Imai, Kohsuke, Okada, Satoshi, Kanegane, Hirokazu, Ohnishi, Hidenori
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BioMed Central 2021
Aiheet:
Research Article
Linkit: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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