A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. [electronic resource]
Producer: 20131210Description: 1088-99 p. digitalISSN:- 1573-2592
- Active Transport, Cell Nucleus -- genetics
- Cell Nucleus -- metabolism
- Child, Preschool
- Cytokines -- immunology
- Ectodermal Dysplasia -- immunology
- Fibroblasts -- immunology
- HeLa Cells
- Humans
- I-kappa B Kinase -- genetics
- Immunologic Deficiency Syndromes -- immunology
- Infant
- Lymphocyte Activation -- genetics
- Male
- Mutation, Missense -- genetics
- Polyendocrinopathies, Autoimmune -- immunology
- Proteolysis
- Th17 Cells -- immunology
- Transgenes -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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