Fusco, Francesca

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