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Novel mutation in the TUBB4 gene. The electropherograms show the sequence of exon 1 of TUBB4 around the start codon (boxed) for Patient L-3270. The c.4C>G mutation is highlighted by the letter S in red. (A) At the DNA level, the mutation is heterozygous with equal peak heights for both alleles. (B) At the RNA level, the wild-type allele is apparently more abundant than the mutant allele, prompting real-time quantitative polymerase chain reaction experiments.
