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
Molecular basis for the phenotypical diversity of phenylketonuria and related hyperphenylalaninaemias
✍ Scribed by F. Güttler; P. Guldberg; K. F. Henriksen; I. Mikkelsen; B. Olsen; H. Lou
- Publisher
- Springer
- Year
- 1993
- Tongue
- English
- Weight
- 189 KB
- Volume
- 16
- Category
- Article
- ISSN
- 0141-8955
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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,
Mutations in the human phenylalanine hydroxylase gene producing phenylketonuria or hyperphenylalaninemia have now been identified in many patients from various ethnic groups. These mutations all exhibit a high degree of association with specific restriction fragment-length polymorphism haplotypes at
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