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Article

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

American journal of human genetics - 1 Apr 2006

Puel Anne, Reichenbach Janine, Bustamante Jacinta, Ku Cheng-Lung, Feinberg Jacqueline, Döffinger Rainer, Bonnet Marion, Filipe-Santos Orchidée, de Beaucoudrey Ludovic, Durandy Anne, Horneff Gerd, Novelli Francesco, Wahn Volker, Smahi Asma, Israel Alain, Niehues Tim, Casanova Jean-Laurent

Abstract excerpt

Amorphic mutations in the NF- kappa B essential modulator (NEMO) cause X-dominant incontinentia pigmenti, which is lethal in males in utero, whereas hypomorphic mutations cause X-recessive anhidrotic ectodermal dysplasia with immunodeficiency, a complex developmental disorder and life-threatening primary immunodeficiency. We characterized the NEMO mutation 110_111insC, which creates the most-upstream premature...

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Share to Amino Acid Sequence
Share to Chromosomes, Human, X

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 16532398
DOI: 10.1086/501532
PMCID: PMC1424680

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.PMID 16532398Read ↗

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