Inactivation of phenylalanine hydroxylase by a missense mutation, R270S, in a Palestinian kinship with phenylketonuria
| Autor: | Sandra Kleiman, Jia Li, Gerard Schwartz, A.E. Kimura, Randy C. Eisensmith, Savio L.C. Woo, Yosef Shiloh |
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| Rok vydání: | 1993 |
| Předmět: |
Phenylalanine hydroxylase
DNA Mutational Analysis Molecular Sequence Data Polymerase Chain Reaction Dna genetics Phenylketonurias Genetics Kinship Ethnicity Missense mutation Humans Base sequence Molecular Biology Genetics (clinical) chemistry.chemical_classification biology Base Sequence Phenylalanine 4-Monooxygenase Phenylalanine Hydroxylase General Medicine DNA Enzyme chemistry Mutation (genetic algorithm) Mutation biology.protein |
| Zdroj: | Human molecular genetics. 2(5) |
| ISSN: | 0964-6906 |
| Databáze: | OpenAIRE |
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