Focus on the molecular genetics of phenylketonuria
β Scribed by Johannes Zschocke
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 66 KB
- Volume
- 21
- Category
- Article
- ISSN
- 1059-7794
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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
Characterization of the molecular basis of phenylketonuria (PKU) in Latvia has been accomplished through the analysis of 96 unrelated chromosomes from 50 Latvian PKU patients. Phenylalanine hydroxylase (PAH) gene mutations have been analyzed through a combined approach in which R158Q, R252W, R261Q,
No Abstract.
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