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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 protein: p.G137fsX27.
