This report identifies eight new mutations of the phenylalanine hydroxylase gene detected in Italian patients with hyperphenylalaninemia. The trivial name of the mutations, predicted phenotypic effect, and population of origin (Italian region) are as follows: F55L (nonconservative change: classic, m
Mutations of the phenylalanine hydroxylase gene in mild hyperphenylalaninemia: A novel mutation in exon 3
✍ Scribed by Cezary Żekanowski; Barbara Cabalska; Piotr Borsuk; Jerzy Bal
- Publisher
- John Wiley and Sons
- Year
- 1997
- Tongue
- English
- Weight
- 97 KB
- Volume
- 10
- Category
- Article
- ISSN
- 1059-7794
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