Type III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case report
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics,Molecular Biology,General Medicine,Immunology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1744-313X.2012.01105.x/fullpdf
Reference13 articles.
1. RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency;Durand;EMBO Journal,1997
2. Genetic and molecular definition of complementation group D in MHC class II deficiency;Fondaneche;Human Molecular Genetics,1998
3. The RFX complex is crucial for the constitutive and CIITA-mediated transactivation of MHC class I and beta2-microglobulin genes;Gobin;Immunity,1998
4. The MHC-specific enhanceosome and its role in MHC class I and beta(2)-microglobulin gene transactivation;Gobin;Journal of Immunology,2001
5. A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients;Masternak;Nature Genetics,1999
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