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
โฆ LIBER โฆ
Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency
โ Scribed by M. Lindner; R. Steinfeld; P. Burgard; A. Schulze; E. Mayatepek; J. Zschocke
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 28 KB
- Volume
- 21
- Category
- Article
- ISSN
- 1059-7794
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Mutational spectrum in German patients w
โ
Christa Aulehla-Scholz; Helmut Heilbronner
๐
Article
๐
2003
๐
John Wiley and Sons
๐
English
โ 32 KB
Mutation spectrum in Taiwanese patients
โ
Yin-Hsiu Chien; Shu-Chuan Chiang; Aichu Huang; Shi-Ping Chou; Szu-San Tseng; Yua
๐
Article
๐
2004
๐
John Wiley and Sons
๐
English
โ 37 KB
๐ 1 views
The spectrum of phenylalanine hydroxylase (PAH) gene mutations was determined in 25 families of hyperphenylalaninemia identified by a neonatal screening program in Taiwan. The coding sequence and exon-flanking intron sequences of PAH gene were amplified and sequenced. Mutations were identified in fo