Reconstitution of enzymatic activity in hepatocytes of phenylalanine hydroxylase-deficient mice
β Scribed by Ta-Jen Liu; Mark A. Kay; Gretchen J. Darlington; Savio L. C. Woo
- Book ID
- 112501317
- Publisher
- Springer
- Year
- 1992
- Tongue
- English
- Weight
- 777 KB
- Volume
- 18
- Category
- Article
- ISSN
- 1572-9931
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Both the haplotype distribution and the mutational spectrum of the phenylalanine hydroxylase (PAH) gene has been defined for the Chilean phenylketonuria (PKU) population. Mutation analysis was performed using a combined approach of screening for common European and Oriental mutations and application
We present the results of a comprehensive analysis of mutations, polymorphisms and haplotypes in the phenylalanine hydroxylase (PAH) gene in 39 Croatian families with phenylketonuria (PKU). A total of 21 disease-causing mutations was identified on 78 out of 79 independent chromosomes. The commonest