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" regio...

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发表在:	PLoS ONE
Main Authors:	Adam G W Matthews, Christine E Briggs, Keiichi Yamanaka, Trudy N Small, Jana L Mooster, Francisco A Bonilla, Marjorie A Oettinger, Manish J Butte
格式:	文件
语言:	英语
出版:	Public Library of Science (PLoS) 2015-01-01
在线阅读:	http://europepmc.org/articles/PMC4388548?pdf=render