Figure 4 of
Gonzalez-Fernandez, Mol Vis 1999;
Figure 4. RDH5 defects in the proband from family 1002
Exon 4 DNA including its flanking intron sequences were amplified from an affected member or normal subject and sequenced by independent techniques. A. Gel autoradiogram. B. Fluorescence sequence profile.
Exon 4 of the family-1002 proband contained a homozygous missense Gly238Trp (GGG -> TGG) mutation (arrow heads).