Article
Frequency of the IVS-10nt546 mutation in 44 Turkish phenylketonuria patients.
The Turkish journal of pediatrics - 1 Jan 2000
Ozgüç M, Ozalp I, Coşkun T, Yilmaz E, Erdem H, Ayter S
Abstract excerpt
The newly identified point mutation in intron 10 of the phenylalanine hydroxylase gene activates a cryptic splice site and results in an in-frame insertion of nine nucleotides between exons 10 and 11 of the processed transcript. This mutation is observed in association with haplotype 6 of phenylketonuria chromosomes. Since in Turkey, haplotype 6 is observed in 40 percent of mutant phenylketonuria alleles, the aim...
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