Mutation analysis of the TNFAIP3 in A20 haploinsufficiency: A case report

INTRODUCTION: Haploinsufficiency of A20 (HA20) is a novel genetic disease presented by Zhou et al in 2016. A20 is a protein encoded by TNFAIP3. Loss-of-function mutation in TNFAIP3 will trigger a new autoinflammatory disease: HA20. HA20-affected patients may develop a wide range of clinical manifest...

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Detalles Bibliográficos
Autores principales: Yan, Mei, Li, Danlu, Aknai, Shakan, Zhu, Hongtao, Abudureyim, Mayila
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
6200
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8137073/
https://www.ncbi.nlm.nih.gov/pubmed/34011076
http://dx.doi.org/10.1097/MD.0000000000025954

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8137073/
https://www.ncbi.nlm.nih.gov/pubmed/34011076
http://dx.doi.org/10.1097/MD.0000000000025954

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