LAD II patient G displays a premature translational termination codon in the GFTP gene. (A) The genomic sequence coding for the GFTP and the respective transcripts obtained from 2 independent RT-PCRs were sequenced and found to bear a G969A nucleotide substitution resulting in a premature stop codon. (B) Predicted topology of wild-type and mutated GFTP. Boxes represent transmembrane domains. The GFTP of LAD II patient G is predicted to be truncated after the ninth transmembrane domain.