Clinical phenotype and immunological features of a patient with A20 haploinsufficiency
Objective: To explore the clinical phenotype, immunological features, pathogenesis and gene variation of a case with A20 haploinsufficiency (HA20). Methods: A patient diagnosed with tumor necrosis factor α-induced protein 3 (TNFAIP3) mutated HA20 was admitted into Shenzhen Children's Hospital i...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 58(2020), 3 vom: 02. März, Seite 218-222
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| 1. Verfasser: |
Huang, Y Y
(VerfasserIn) |
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| Weitere Verfasser: |
He, T Y,
Xia, Y,
Luo, Y,
Weng, R H,
Luo, S L,
Yang, J,
Zhao, X D |
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| Format: | Online-Aufsatz
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| Sprache: | Chinese |
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| Veröffentlicht: |
2020
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics
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| Schlagworte: | Case Reports
Journal Article
Genes
Haploinsufficiency
Mutation
NF-kappa B
TNFAIP3 protein, human
EC 3.4.19.12
Tumor Necrosis Factor alpha-Induced Protein 3 |
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