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
✦ LIBER ✦
Identification of seven new mutations in the phenylalanine hydroxylase gene, associated with hyperphenylalaninemia in the Belgian population
✍ Scribed by Dr. Luc Michiels; Baudouin François; Jef Raus; Caroline Vandevyver
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 224 KB
- Volume
- 11
- Category
- Article
- ISSN
- 1059-7794
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