Figure 1. Deoxyribonucleic acid sequence analysis of individuals. Sequencing chromatograms of the heterozygous parents and affected homozygous individuals from family 3, 4, 5, 6, 7, and 8 are shown. Arrows mark the nucleotide change in a heterozygous state in parents and in a homozygous state in affected individuals. + and m denote the wild type and the mutant alleles.