Figure 2 of
Zhang, Mol Vis 2007;
13:1674-1679.
Figure 2. DNA sequence chromatograms of the unaffected and affected members in families 1, 2, and 3
A: A single transition was observed at position 781 (C>G) of the FRMD7 gene, causing a substitution of Arg to Gly at codon 261 (A261G). B: A single transition was observed at position 886 (G>C) of the FRMD7 gene, causing a substitution of Gly to Arg at codon 296 (G296A). C: A single transition was observed at position 1003 (C>T) of the FRMD7 gene, causing a substitution of Arg to a stop codon at codon 335 (R335X). The mutations in female patients are heterozygous and the mutations in male patients are homozygous.