Figure 2 of
Pina, Mol Vis 2004;
Figure 2. Molecular genetic analysis of the K270del mutation in II-1 and II-4
On the left, an exon 7 SSCP is shown. Variant II-1 represents the mutant, and II-4 represents the normal state, in this case the non-carrier sister of the proband. On the right, results are presented from direct automated sequencing: the top panel represents the non-carrier or wild type individual (II-4), and the lower panel one of the carriers, in this case the proband (II-1) showing the heterozygous three base pair (AAG) deletion. The sequence numbering is from GenBank accession number Z18859.