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Reagents, Molecular Assay, Gene Anomaly, Mutation, IKbKG

Definition : Molecular assay reagents intended to identify mutations in the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma (IKbKG) gene, located at chromosome Xq28, which encodes for a protein involved in regulating the nuclear factor kappa B, which controls the activity of other genes. Mutations at this locus have been identified in patients with incontinentia pigmenti (IP); mutations are also present in males with a type of hypohidrotic ectodermal dysplasia.

Entry Terms : "Incontinentia Pigmenti (IP) Diagnostic Reagents" , "IKBKG Gene Mutation Detection Reagents"

UMDC code : 24480

   

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