Figure 2.
Figure 2. Identification of the homozygous 543T>G mutation in exon 8. (A) DNA sequence analysis showing the site of the substitution. (B) SfaNI digestion showing the mutation in the family members. N indicates normal control; SM, pUC19 DNA/MspI size marker. Numbers indicate bp.

Identification of the homozygous 543T>G mutation in exon 8. (A) DNA sequence analysis showing the site of the substitution. (B) SfaNI digestion showing the mutation in the family members. N indicates normal control; SM, pUC19 DNA/MspI size marker. Numbers indicate bp.

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