Clinical application of genotypic diagnosis for phenylketonuria: theoretical considerations
- 1 September 1991
- journal article
- review article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 150 (11) , 752-756
- https://doi.org/10.1007/bf02026704
Abstract
No abstract availableKeywords
This publication has 22 references indexed in Scilit:
- A single origin of phenylketonuria in Yemenite JewsNature, 1990
- CpG dinucleotides are mutation hot spots in phenylketonuriaGenomics, 1989
- Phenylalanine hydroxylase deficiency caused by a single base substitution in an exon of the human phenylalanine hydroxylase geneBiochemistry, 1988
- An ammo-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2Nature, 1987
- Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuriaThe Journal of Pediatrics, 1987
- Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuriaNature, 1986
- Molecular Analysis of the Inheritance of Phenylketonuria and Mild Hyperphenylalaninemia in Families with Both DisordersNew England Journal of Medicine, 1986
- Molecular structure and polymorphic map of the human phenylalanine hydroxylase geneBiochemistry, 1986
- Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylaseBiochemistry, 1985
- Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuriaNature, 1983