Figure 3. Forward and reverse sequence
chromatograms illustrating a single base pair deletion in GALK1.
A: Individual 11 homozygous for wild type allele. B:
Individual 13 heterozygous for mutant and wild type allele. C:
Individual 14 homozygous for the single base pair deletion in exon 3;
c.410delG. This deletion leads to a frame shift in the open reading
frame of GALK1, which results in a premature termination of the