Rh50 transcript analysis in patient AC. In the control sample, nt 945/946 correspond to the exon 6-exon 7 junction. In patient AC, a 122-bp deletion (nt 946 to 1067, ie, the entire transcribed exon 7 region) results in a new junction, nt 945/1068. This deletion introduced a frameshift resulting in 36 novel amino acids (in bold italics) at the C-terminal region, after the threonine at position 315. Ctrl, normal Rh50 cDNA.5 The star identifies the stop codon located in exon 9. Junctions of exons 6-7 and exons 7-8 are shown.