Phenylketonuria: detection of a frequent haplotype 4 allele mutation
- 1 December 1989
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 84 (1) , 95-96
- https://doi.org/10.1007/bf00210683
Abstract
By sequence analysis of 94 phenylketonuria (PKU) alleles using polymerase chain reaction (PCR) based techniques, we identified a G to A transition in exon 5 of the human phenylalanine hydroxylase gene. This base substitution predicts an Arg158→Glu158 amino acid exchange and is strongly associated with the mutant haplotype 4 PKU allele.Keywords
This publication has 8 references indexed in Scilit:
- A BETA-THALASSEMIA GENE CAUSED BY A 290-BASE PAIR DELETION - ANALYSIS BY DIRECT SEQUENCING OF ENZYMATICALLY AMPLIFIED DNA1989
- A beta-thalassemia gene caused by a 290-base pair deletion: analysis by direct sequencing of enzymatically amplified DNABlood, 1989
- MOLECULAR-GENETICS OF PHENYLKETONURIA IN MEDITERRANEAN COUNTRIES - A MUTATION ASSOCIATED WITH PARTIAL PHENYLALANINE-HYDROXYLASE DEFICIENCY1989
- Phenylketonuria: distribution of DNA diagnostic patterns in German familiesHuman Genetics, 1988
- Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA PolymeraseScience, 1988
- Primer-directed enzymatic amplification of DNA with a thermostable DNA polymeraseScience, 1988
- An ammo-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2Nature, 1987
- Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuriaNature, 1986