Nature

A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients

RFX binds to the MHC-II promoters cooperatively 13,14,15 with two other transcription factors, NF-Y (ref. 16) and X2BP (ref. 17). Although these three factors bind individually with a short half life ...
Nature

The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease

Figure 2: Sequence analysis of the ABC1 region containing the G1764del frameshift mutation in pedigree TD1. Figure 4: Southern-blot analysis in pedigree TD2. Figure 5: Sequence analysis of the ...