Compound Heterozygous Mutation of Rag1 Leading to Omenn Syndrome

Omenn syndrome is a primary immunodeficiency disorder, featuring susceptibility to infections and autoreactive T cells and resulting from defective genomic rearrangement of genes for the T cell and B cell receptors. The most frequent etiologies are hypomorphic mutations in “non-core” regions of the...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:PLoS One
Prif Awduron: Matthews, Adam G. W., Briggs, Christine E., Yamanaka, Keiichi, Small, Trudy N., Mooster, Jana L., Bonilla, Francisco A., Oettinger, Marjorie A., Butte, Manish J.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2015
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4388548/
https://ncbi.nlm.nih.gov/pubmed/25849362
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0121489
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