Figure 5 of
Gonzalez-Fernandez, Mol Vis 1999;
Figure 5. RDH5 defects in family 1006
Exon 5 was amplified from the DNA obtained from various members and sequenced. The proband (son) had compound heterozygotic missense mutations Arg280His (CGC -> CAC) and Ala294Pro (GCC -> CCC). Segregation of mutations between mother, proband and his daughter are shown in the fluorescence DNA sequencing profiles (arrowheads).