Figure 1. Pedigrees, elution dHPLC profiles, and sequence changes for each new disease-associated ABCA4 mutations are shown: A - p.Met1Thr (c.2T>C); B - p.Glu1574X (c.4720G>T); C - p.Gln134X (c.400C>T); and p.Thr1346fs (c.4036_4037delAC). In B and C, the forward sequence changes are shown. In A, the reverse normal, heterozygous, and homozygous mutant sequences are presented. The arrows indicate the individuals genotyped
from each family, including the STGD proband (filled symbols) and siblings.