Article
Dihydropteridine reductase deficiency: physical structure of the QDPR gene, identification of two new mutations and genotype-phenotype correlations.
Human mutation - 1 Jan 1998
Dianzani I, de Sanctis L, Smooker P M, Gough T J, Alliaudi C, Brusco A, Spada M, Blau N, Dobos M, Zhang H P, Yang N, Ponzone A, Armarego W L, Cotton R G
Abstract excerpt
Dihydropteridine reductase (DHPR) is an enzyme involved in recycling of tetrahydrobiopterin (BH4), the cofactor of the aromatic amino acid hydroxylases. Its deficiency is characterized by hyperphenylalaninemia due to the secondary defect of phenylalanine hydroxylase and depletion of the neurotran...
Topics
- Alleles
- Amino Acid Metabolism, Inborn Errors
- Cloning, Molecular
- DNA Mutational Analysis
- DNA Primers
- Dihydropteridine Reductase
- Exons
- Genes
- Genotype
- Humans
- Introns