Figure 2 of Riveiro-Alvarez, Mol Vis 2005; 11:705-712.

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]).

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Riveiro-Alvarez, Mol Vis 2005; 11:705-712 <>
©2005 Molecular Vision <>
ISSN 1090-0535