Molecular diagnosis of phenylketonuria: From defective protein to disease-causing gene mutation
Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism, with an average incidence of 1/10000 in Caucasians. PKU is caused by more than 500 mutations in the phenylalanine hydroxylase gene (PAH) which result in phenylalanine hydroxylase (PAH) enzyme deficiency. Two approaches,...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
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Society of Medical Biochemists of Serbia, Belgrade
2009-01-01
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| Series: | Journal of Medical Biochemistry |
| Subjects: | |
| Online Access: | https://scindeks-clanci.ceon.rs/data/pdf/1452-8258/2009/1452-82580904262P.pdf |