Figure 2 of
Riveiro-Alvarez, Mol Vis 2005;
Figure 2. Partial sequences from the mother and the affected son of Family 1
Top: The mother's normal electropherogram. Bottom: The affected son's sequence, presenting a "de novo" hemizygotic deletion of 5 nucleotides (TGTCG), which generated a premature stop codon and a truncated protein (V89fsX101 [654_658 del TGTCG]).