Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference54 articles.
1. A Missense Mutation (A to G) of 6-Pyruvoyltetrahydropterin Synthase in Tetrahydrobiopterin-Deficient Form of Hyperphenylalaninemia
2. Dopa-responsive dystonia in British patients: new mutations of the GTP- cyclohydrolase I gene and evidence for genetic heterogeneity
3. Increase of GTP cyclohydrolase I activity in mononuclear blood cells by stimulation: detection of heterozygotes of GTP cyclohydrolase I deficiency
4. Tetrahydrobiopterin Deficiency: From Phenotype to Genotype
5. Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue
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