Figure 3. Identification of two novel ABCA4 mutations. DNA sequence analysis for patient II-1 showed the presence of compound heterozygous c.655A>T and c.5312+3A>T mutations. A and D show the sequences from a normal and affected family member with mutation c.655A>T allele, respectively. B and E show the sequences from a normal and affected family member with mutation c.5312+3A>T allele, respectively. C and F show sequences for the wild type and mutant c.5312+3A>T allele, respectively, which were separated by subcloning of PCR products from an affected family member.