Molecular biology of phenylketonuria
✍ Scribed by F. Güttler; A. G. DiLella; F. D. Ledley; A. S. Lidsky; S. C. M. Kvok; J. Marvit; S. L. C. Woo
- Book ID
- 104775565
- Publisher
- Springer
- Year
- 1987
- Tongue
- English
- Weight
- 701 KB
- Volume
- 146
- Category
- Article
- ISSN
- 0340-6997
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
In this study we report the mutation analysis performed in Cuban PKU patients using DGGE and direct sequencing. Sixteen different mutations have been detected, which account for 91% of the total mutant alleles. Haplotype analysis and genealogical data support the European (mainly Spanish) origin of
We report the spectrum of phenylalanine hydroxylase (PAH) gene mutations in patients with phenylketonuria (PKU) residing in Lithuania. A total of 184 independent chromosomes was investigated. R408W mutation was first analysed through restriction enzyme digestion of exon 12. The remaining uncharacter