Article
CpG methylation accounts for a recurrent mutation (c.1222C>T) in the human PAH gene.
Human mutation - 1 Sept 2006
Murphy B C, Scriver C R, Singh S M
Abstract excerpt
The human PAH gene (GenBank: U49897.1 (cDNA), AF404777 (gDNA)) harbors alleles that either cause or are associated with hyperphenylalaninemia and phenylketonuria (http://www.pahdb.mcgill.ca). Mutation analysis has identified approximately 500 alleles of which approximately 30 produce polymorphic core haplotypes. The c.1222C>T allele (p.R408W) is the most prevalent and widely encountered PKU-causing allele....
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