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Expanding the spectrum of A20 haploinsufficiency in two Chinese families: cases report
BACKGROUND: The association between mutations in the TNFAIP3 gene and a new autoinflammatory disease (called A20 haploinsufficiency, HA20) has recently been recognized. Here, we describe four patients with HA20 from two unrelated Chinese families. CASE PRESENTATION: A total of four patients from two...
Autores principales: | Li, Guo-min, Liu, Hai-mei, Guan, Wan-zhen, Xu, Hong, Wu, Bing-bing, Sun, Li |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6624950/ https://www.ncbi.nlm.nih.gov/pubmed/31299923 http://dx.doi.org/10.1186/s12881-019-0856-1 |
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