Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet's disease. [electronic resource]
Producer: 20200529Description: 137 p. digitalISSN:- 1478-6362
- Adult
- Behcet Syndrome -- diagnosis
- Child
- DNA -- genetics
- DNA Mutational Analysis
- Female
- Genetic Predisposition to Disease
- Genetic Testing -- methods
- Haploinsufficiency -- genetics
- Humans
- Male
- Mutation
- Pedigree
- Phenotype
- Tumor Necrosis Factor alpha-Induced Protein 3 -- genetics
- Tumor Necrosis Factor-alpha
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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