| Literature DB >> 4405625 |
P A Friedman, D B Fisher, E S Kang, S Kaufman.
Abstract
An extract from a liver biopsy of a patient with classical phenylketonuria contains phenylalanine 4-hydroxylase (EC 1.14.3.1) with a specific activity 0.27% of the normal activity of the hydroxylase. This enzyme from a patient with phenylketonuria is a structurally altered form of phenylalanine 4-hydroxylase that probably results from a mutation in the gene coding for the hydroxylase.Entities:
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Year: 1973 PMID： 4405625 PMCID： PMC433304 DOI： 10.1073/pnas.70.2.552
Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN： 0027-8424 Impact factor: 11.205