Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency. [electronic resource]
Producer: 20180326Description: 397-412 p. digitalISSN:- 1573-2592
- Alleles
- Animals
- Enzyme Activation
- Gain of Function Mutation
- Gene Expression Regulation
- Genetic Association Studies
- Genetic Predisposition to Disease
- Germ-Line Mutation
- Hematopoietic Stem Cell Transplantation
- Heterozygote
- Humans
- Immunity -- genetics
- Immunologic Deficiency Syndromes -- diagnosis
- NF-KappaB Inhibitor alpha -- genetics
- Organ Specificity -- genetics
- Phenotype
- Phosphorylation
- Proteolysis
- Severity of Illness Index
- Treatment Outcome
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Publication Type: Journal Article; Review
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