𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Molecular biology of phenylalanine hydroxylase

✍ Scribed by R. G. F. Cotton; H. H. M. Dahl; J. F. B. Mercer; I. Jennings; E. A. Haan; C. W. Chow; D. M. Danks; F. J. Morgan

Book ID
105312685
Publisher
Springer
Year
1986
Tongue
English
Weight
208 KB
Volume
9
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.

πŸ“œ SIMILAR VOLUMES

Molecular characterization of phenylalan
Molecular characterization of phenylalanine hydroxylase deficiency in Chile
✍ BelΓ©n PΓ©rez; Lourdes R. Desviat; Marisel De Lucca; Veronica Cornejo; Erna Raiman πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 28 KB πŸ‘ 1 views

Both the haplotype distribution and the mutational spectrum of the phenylalanine hydroxylase (PAH) gene has been defined for the Chilean phenylketonuria (PKU) population. Mutation analysis was performed using a combined approach of screening for common European and Oriental mutations and application

Molecular genetics of tetrahydrobiopteri
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
✍ Marcel R. ZurflΓΌh; Johannes Zschocke; Martin Lindner; FranΓ§ois Feillet; CΓ©line C πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 309 KB

## Communicated by Ronald J.A. Wanders Mutations in the phenylalanine hydroxylase (PAH) gene result in phenylketonuria (PKU). Tetrahydrobiopterin (BH 4 )-responsive hyperphenylalaninemia has been recently described as a variant of PAH deficiency caused by specific mutations in the PAH gene. It has