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
1997
Tongue
English
Weight
97 KB
Volume
10
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 👁 1 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

Ten novel mutations in the phenylalanine
✍ A.X. Acosta; W.A. Silva Jr.; T.M. Carvalho; M.A. Zago 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 15 KB 👁 1 views

In the present study we report on the identification of ten novel mutations in the phenylalanine hydroxylase (PAH) gene of Brazilian patients with phenylketonuria (PKU): IVS5-54A>G, IVS6+17G>T, E205A, F240S, K274E, I318T, L321L, C357G, IVS11+17G>A and S411X. These mutations were detected during the

Novel mutations of the RPGR gene in RP3
✍ Ilaria Zito; Michael B. Gorin; Catherine Plant; Alan C. Bird; Shomi S. Bhattacha 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 19 KB 👁 2 views

X-linked retinitis pigmentosa is a severe retinal degeneration characterized by night blindness and visual field constriction, leading to complete blindness within the third decade of life. Mutations in the RPGR gene (retinitis pigmentosa GTPase regulator), located on Xp21.1 in the RP3 region, have