CpG hotspot causes second mutation in codon 408 of the phenylalanine hydroxylase gene.
作者信息
Ramus S J, Forrest S M, Saleeba J A, Cotton R G
机构信息
Olive Miller Protein Laboratory, Murdoch Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
出版信息
Hum Genet. 1992 Sep-Oct;90(1-2):147-8. doi: 10.1007/BF00210760.
PMID:1358783
Abstract
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.
摘要
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