Fig. 1. Molecular analysis of DNA and RNA from an SCN patient with an. / ELA2 mutation. (A) AciI restriction enzyme digestion demonstrating heterozygosity in patient 11 and wild-type alleles in the parents. C4477A mutation removes a cleavage site for the enzyme AciI. (B) RT-PCR analysis demonstrating equivalent amounts of the normal and mutant mRNA. Splice acceptor mutation leads to insertion of 6 bp in the mRNA transcript.
Fig. 1.

Molecular analysis of DNA and RNA from an SCN patient with an

ELA2 mutation. (A) AciI restriction enzyme digestion demonstrating heterozygosity in patient 11 and wild-type alleles in the parents. C4477A mutation removes a cleavage site for the enzyme AciI. (B) RT-PCR analysis demonstrating equivalent amounts of the normal and mutant mRNA. Splice acceptor mutation leads to insertion of 6 bp in the mRNA transcript.

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