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


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).

(36 K)

Gonzalez-Fernandez, Mol Vis 1999; 5:41 <http://www.molvis.org/molvis/v5/p41/>
©1999 Molecular Vision <http://www.molvis.org/molvis/>
ISSN 1090-0535