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The mutations and VNTRs in the phenylalanine hydroxylase gene of phenylketonuria in St Petersburg

✍ Scribed by S. Baranovskaya; S. Shevtsov; S. Maksimova; A. Kuzmin; E. Schwartz


Publisher
Springer
Year
1996
Tongue
English
Weight
95 KB
Volume
19
Category
Article
ISSN
0141-8955

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Molecular basis of phenylketonuria and r
✍ Randy C. Eisensmith; Savio L. C. Woo πŸ“‚ Article πŸ“… 1992 πŸ› John Wiley and Sons 🌐 English βš– 875 KB

Mutations in the human phenylalanine hydroxylase gene producing phenylketonuria or hyperphenylalaninemia have now been identified in many patients from various ethnic groups. These mutations all exhibit a high degree of association with specific restriction fragment-length polymorphism haplotypes at