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 phenylk...
Topics
- Alleles
- Child
- Child, Preschool
- Exons
- Female
- Gene Frequency
- Haplotypes
- Humans
- Infant
- Infant, Newborn
- Introns
- Male
- Mutation
- Phenylalanine Hydroxylase
- Phenylketonurias
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Turkey