In vitro residual activities in 20 variants of phenylalanine hydroxylase and genotype-phenotype correlation in phenylketonuria patients.
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DOI: 10.1016/j.gene.2019.05.029
Abstract: Phenylketonuria (PKU), caused by phenylalanine hydroxylase (PAH) gene variants, is a common autosomal inherited metabolic disease. So far, 1111 PAH variants have been revealed. The residual activity of the PAH variants is the key determinant… read more here.
Keywords: phenotype; residual activities; pah variants; phenylalanine hydroxylase ... See more keywords