Associated Papers
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti disease.
Conte MI et al.
Human Mutation, 2014
[An incontinentia pigmenti family with deletion in both NEMO gene and pseudogene DeltaNEMO].
Zhang G et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
Alterations of the IKBKG locus and diseases: an update and a report of 13 novel mutations.
Fusco F et al.
Human Mutation, 2008
The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.
Puel A et al.
American Journal of Human Genetics, 2006
A recurrent deletion in the ubiquitously expressed NEMO (IKK-gamma) gene accounts for the vast majority of incontinentia pigmenti mutations.
Aradhya S et al.
Human Molecular Genetics, 2001
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