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- W2393441490 abstract "Objective To study mutation in exon 6 and 7 of the gene for the phenylalanine hydroxylase (PAH).Methods The mutations in exon 6 and 7 and flanking sequence of PAH gene were detected by DNA sequencing,involved in 56 patients with phenylketonuria and112 healthy kids.Results Two synonymous mutations-Q232Q (CAA→CAG) and V245V (GTG→GTA) were also detected,which the frequency of cDNA 696 mutation G type and cDNA735-A point mutation was respectively up to 96.2% and 76.1%,we concluded that the 696 735 wild-type site may be G,A in Shanxi Province. Besides,thirty-seven different mutations account for 33.04% of mutant alleles,Y204C was found in exon6; In exon 7,R243Q was the highest incidence,accounting for 10.7%,followed by Ivs7 + 2 TA,5.4%,G247V,R252Q,L255S,R261Q,T278I and E280K accounting for 0.9%,0.9%,0.9%,0.9%,2.7%,0.9% respectively. 7 missense mutations and 2 splice site mutation were included in 9 kinds of different mutations.Conclusions The mutation characteristics and distribution in exon 6 and 7 of PAH gene has been identified,which showed that the Y204C and R243Q were the hot region of PAH gene mutation in Shanxi PKU population." @default.
- W2393441490 created "2016-06-24" @default.
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- W2393441490 date "2011-01-01" @default.
- W2393441490 modified "2023-09-28" @default.
- W2393441490 title "Mutations in exon 6 and 7 of the phenylalanine hydroxylase(PAH) gene in chinese patients with phenylketonuria" @default.
- W2393441490 hasPublicationYear "2011" @default.
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