Figure 4 of Gonzalez-Fernandez, Mol Vis 1999; 5:41.

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).

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