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Association of Clinical Phenotypes in Haploinsufficiency A20 (HA20) With Disrupted Domains of A20
Background: Haploinsufficiency A20 (HA20) is a newly described monogenic disease characterized by a wide spectrum of manifestations and caused by heterozygous mutations in TNFAIP3 which encodes A20 protein. TNFAIP3 mutation leads to disruption of the A20 ovarian tumor (OTU) domain and/or the zinc fi...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7546856/ https://www.ncbi.nlm.nih.gov/pubmed/33101300 http://dx.doi.org/10.3389/fimmu.2020.574992 |