Figure 2 of
Riveiro-Alvarez, Mol Vis 2007;
13:96-101.
Figure 2. The DNA sequence of ABCA4 codons 1126 to 1132, in the index patient and both parents
The patient (02/725) shows a homozygous pattern for the missense p.Arg1129Leu mutation. Her father (02/724) presents a heterozygous pattern, while her mother (02/726) shows a homozygous wild-type sequence.