Article
RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency.
The EMBO journal - 3 Mar 1997
Durand B, Sperisen P, Emery P, Barras E, Zufferey M, Mach B, Reith W
Abstract excerpt
Major Histocompatibility Complex class II (MHC-II) deficiency is a disease of gene regulation that provides a unique opportunity for the genetic dissection of the molecular mechanisms controlling transcription of MHC-II genes. Cell lines from MHC-II deficiency patients have been assigned to three...
Topics
- Amino Acid Sequence
- Base Sequence
- DNA
- DNA-Binding Proteins
- Flow Cytometry
- Gene Expression Regulation
- Genes, MHC Class II
- Genetic Complementation Test
- Humans
- Molecular Sequence Data
- Mutation
- Regulatory Factor X Transcription Factors
- Sequence Analysis
- Severe Combined Immunodeficiency
- Transcription Factors
- Transformation, Genetic