Prokaryotic expression analysis of I269L and R270K mutations of the phenylalanine hydroxylase gene
β Scribed by Paula Leandro; Isabel Rivera; Maria Celeste Lechner; David Konecki; Isabel Tavares de Almeida
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 46 KB
- Volume
- 2
- Category
- Article
- ISSN
- 1438-7506
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
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 in the human phenylalanine hydroxylase gene (PAH) altering the expressed cDNA nucleotide sequence (GenBank U49897) can impair activity of the corresponding enzyme product (hepatic phenylalanine hydroxylase, PAH) and cause hyperphenylalaninemia (HPA), a metabolic phenotype for which the maj