Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation. [electronic resource]
- Human molecular genetics Aug 2004
- 1763-73 p. digital
Publication Type: Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
0964-6906
10.1093/hmg/ddh192 doi
Animals Base Sequence Blotting, Western Carrier Proteins--genetics Cells, Cultured Dosage Compensation, Genetic Exons--genetics Gene Components Genetic Complementation Test Humans I-kappa B Kinase Immunoprecipitation Incontinentia Pigmenti--genetics Lipopolysaccharides Mice Mutagenesis, Site-Directed Mutation--genetics NF-kappa B--metabolism Pedigree Phenotype Plasmids--genetics Signal Transduction--genetics Transfection