Mutation analysis in Turkish phenylketonuria patients.
Open Access
- 1 February 1993
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 30 (2) , 129-130
- https://doi.org/10.1136/jmg.30.2.129
Abstract
Forty-four classical PKU patients have been screened for various mutations. The newly identified IVS 10 splicing mutation was found in 32% of the mutant alleles and comprises 74.5% of the mutations that could be typed: 261arg-gln (6.8%), 158arg-gly (2.3%), 252arg-trp (1.1%), 280glu-lys (-), and 272gly-stop (-) were the other mutations that were screened.Keywords
This publication has 14 references indexed in Scilit:
- Aberrant splicing of phenylalanine hydroxylase mRNA: The major cause for phenylketonuria in parts of southern EuropeGenomics, 1991
- The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populationsHuman Genetics, 1991
- Phenylketonuria mutation in southern EuropeansThe Lancet, 1991
- Spectrum of phenylketonuria mutations in Western Europe and North Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locusHuman Genetics, 1991
- The polymerase chain reaction: current and future clinical applications.Journal of Medical Genetics, 1990
- Phenylketonuria: detection of a frequent haplotype 4 allele mutationHuman Genetics, 1989
- CpG dinucleotides are mutation hot spots in phenylketonuriaGenomics, 1989
- Inherited metabolic disorders in TurkeyJournal of Inherited Metabolic Disease, 1989
- Prenatal diagnosis and carrier detection of genetic diseases by analysis of deoxyribonucleic acidThe Journal of Pediatrics, 1988
- Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylaseBiochemistry, 1985