Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.,Genetics in Medicine

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Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2018-Jul-12 , DOI: 10.1038/s41436-018-0081-x
Sven F Garbade ₁ , Nan Shen _{1,

2} , Nastassja Himmelreich ₁ , Dorothea Haas ₁ , Friedrich K Trefz ₁ , Georg F Hoffmann ₁ , Peter Burgard ₁ , Nenad Blau _{1,

3}

Affiliation

The nature of phenylalanine hydroxylase (PAH) variants determines residual enzyme activity, which modifies the clinical phenotype in phenylketonuria (PKU). We exploited the statistical power of a large genotype database to determine the relationship between genotype and phenotype in PKU.

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