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Phenylalanine hydroxylase mutations and phenylalanine-tyrosine metabolism in heterozygotes for phenylalanine hydroxylase deficiency

✍ Scribed by E Verduci; E Riva; C Agostoni; S Leviti; L Fiori; AM Lammardo; ML Biondi; M Giovannini


Book ID
114813464
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
126 KB
Volume
91
Category
Article
ISSN
0803-5253

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Mutational spectrum in German patients w
✍ Christa Aulehla-Scholz; Helmut Heilbronner πŸ“‚ Article πŸ“… 2003 πŸ› John Wiley and Sons 🌐 English βš– 32 KB

We report on the spectrum and frequency of mutations in the phenylalanine hydroxylase (PAH) gene in 226 German families with PAH deficiency, most of them from Southern Germany. A total of 88 mutations were identified in 428 out of 438 mutant PAH alleles including one novel stop mutation L293X (c.878