Detection of IVS4+1G>A mutation in phenylalanine hydroxylase gene in North of Iran using PCR-sequencing
Background and aims: Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine (Phe) metabolism. Mutations in the phenylalanine hydroxylase (PAH) gene are the main reason for the incidence of PKU. To date, more than 1180 variants have been detected in the PAH gene. Given that the dis...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Shahrekord University of Medical Sciences
2023-02-01
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| Series: | Journal of Shahrekord University of Medical Sciences |
| Subjects: | |
| Online Access: | https://j.skums.ac.ir/PDF/jskums-25-71.pdf |