Figure 3
From: Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia
Pedigree and the sequencing analysis of the family ANF9. A. Two generation family pedigree showing the affected (filled) and unaffected members (unfilled). B. Direct sense strand sequencing of the genomic PCR of the affected proband showing superimposed signals revealing heterozygosity for the deletion mutation. C. Exon 5 of sequencing from an unaffected relative showing the presence of the two base pairs missing in the mutation (BOX).