Figure 2 of
Lin, Mol Vis 2005;
11:245-248.
Figure 2. Pedigree and restriction fragment length polymorphism of Family 3
The blue symbols denote a mild phenotype. Genotypes at c.2860 are labeled as C/C for normal genotype and C/T for heterozygous c.2860C>T mutation. The lower panel is the result of a BsrDI restriction fragment length polymorphism. Patients (heterozygous mutation) have an extra 810 bp fragment.