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. 2010 Mar;99(3):325–328. doi: 10.1016/j.ymgme.2009.11.004

Fig. 2.

Fig. 2

PCFT mutation analysis. (A) Duplication of a G in exon 1 (c.194dupG; p.Cys66LeufsX99). Top panel: sequence chromatogram of a control sample with wild-type allele, Middle panel: sequence chromatogram of the mother with the heterozygous PCFT mutation (c.194dupG). Bottom panel: sequence chromatogram of an affected individual with the homozygous PCFT mutation (c.194dupG). (B) C>T transition at nucleotide 340 in exon 2. Top panel: sequence chromatogram of a control sample with wild-type allele. Middle panel: sequence chromatogram of the mother with the heterozygous PCFT variant. Bottom panel: sequence chromatogram of an affected individual with the homozygous PCFT variant.