Figure 3. Characterization of ABCB6 mutations responsible for the Lan- blood type.
RBC membrane lysates (80 ug/lane) were prepared from a compound heterozygote individual carrying the R276W and the G588S mutations (lane 1); homozygotes carrying the R192W mutation (c.574C>T, p.Arg192Trp); lanes 2, 3); or individuals carrying two wild-type alleles (lanes 4, 5). ABCB6 expression is revealed by the ABCB6-567 monoclonal antibody [9], Band III is shown as loading control.
