NFKBIA variants [cytosol]

Stable Identifier
R-HSA-5228863
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
cytosol
Synonyms
IkBA variant, IkappaBalpha variant
Locations in the PathwayBrowser
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Literature References
PubMed ID Title Journal Year
18412279 A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency

Lopez-Granados, E, Keenan, JE, Kinney, MC, Leo, H, Jain, N, Ma, CA, Quinones, R, Gelfand, EW, Jain, A

Hum. Mutat. 2008
22078572 A rapid screening method to detect autosomal-dominant ectodermal dysplasia with immune deficiency syndrome

Ohnishi, H, Miyata, R, Suzuki, T, Nose, T, Kubota, K, Kato, Z, Kaneko, H, Kondo, N

J. Allergy Clin. Immunol. 2012
Participants
members
Participates
as an input of
as a component of
Disease
Name Identifier Synonyms
primary immunodeficiency disease DOID:612 immune deficiency disorder, immunodeficiency syndrome, hypoimmunity
Cross References
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