Hypomorphic NEMO mutation database and reconstitution system identifies phenotypic and immunologic diversity

BACKGROUND: Human hypomorphic NEMO mutations cause diverse clinical immunologic phenotypes, but understanding their scope and mechanistic links immune function and genotype is incomplete. OBJECTIVE: We created and analyzed a database of hypomorphic NEMO mutations to determine the spectrum of phenoty...

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Détails bibliographiques
Auteurs principaux: Hanson, Eric P., Monaco-Shawver, Linda, Solt, Laura A., Madge, Lisa A., Banerjee, Pinaki P., May, Michael J., Orange, Jordan S.
Format: Artigo
Langue:Inglês
Publié: 2008
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2710968/
https://ncbi.nlm.nih.gov/pubmed/18851874
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2008.08.018
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