𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias

✍ Scribed by P. Guldberg; H. L. Levy; R. Koch; C. M. Berlin; B. Francois; K. F. Henriksen; F. Güttler


Publisher
Springer
Year
1994
Tongue
English
Weight
443 KB
Volume
17
Category
Article
ISSN
0141-8955

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


In vitro expression analysis of mutation
✍ Paula J. Waters; Michael A. Parniak; Piotr Nowacki; Charles R. Scriver 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 231 KB 👁 2 views

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