Molecular basis for the phenotypical diversity of phenylketonuria and related hyperphenylalaninaemias
- 1 May 1993
- journal article
- clinical trial
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 16 (3), 602-604
- https://doi.org/10.1007/bf00711693
Abstract
No abstract availableKeywords
This publication has 10 references indexed in Scilit:
- Molecular basis for nonphenylketonuria hyperphenylalaninemiaGenomics, 1992
- PCR in the Diagnosis of PhenylketonuriaAnnals of Medicine, 1992
- Molecular Basis of Phenotypic Heterogeneity in PhenylketonuriaNew England Journal of Medicine, 1991
- Carrier screening for cystic fibrosis and other autosomal recessive diseases.1990
- Phenylketonuria and HyperphenylalaninemiaPublished by Springer Nature ,1990
- SCREENING FOR PHENYLKETONURIA MUTATIONS BY DNA AMPLIFICATION WITH THE POLYMERASE CHAIN REACTIONThe Lancet, 1988
- Characterization of β-thalassaemia mutations using direct genomic sequencing of amplified single copy DNANature, 1987
- Molecular genetics of PKUJournal of Inherited Metabolic Disease, 1986
- Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.1980