Summary
A new mutation has been identified in exon 12 of the gene encoding phenylalanine hydroxylase at codon 408. The single base change from guanine to adenine changes the amino acid arginine to glutamine; thus, the mutation is defined as R408Q. This codon is the site of a mutation known to causes phenylketonuria. Both these mutations are located at the same CpG site.
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Ramus, S.J., Forrest, S.M., Saleeba, J.A. et al. CpG hotspot causes second mutation in codon 408 of the phenylalanine hydroxylase gene. Hum Genet 90, 147–148 (1992). https://doi.org/10.1007/BF00210760
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DOI: https://doi.org/10.1007/BF00210760