𝔖 Bobbio Scriptorium
✦   LIBER   ✦

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
1998
Tongue
English
Weight
197 KB
Volume
11
Category
Article
ISSN
1059-7794

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Eight new mutations of the phenylalanine
✍ Paolo Bosco; Francesco Calì; Concetta Meli; Florindo Mollica; Enrico Zammarchi; 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 160 KB 👁 2 views

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