Mutation Analysis of PAH Gene in Phenylketonuria Patients from the North of Iran: Identification of Three Novel Pathogenic Variants
Background: There are more than 1100 different pathogenic variants in the phenylalanine hydroxylase (PAH) gene that are responsible for phenylketonuria (PKU) diseases, and the spectrum of these mutations varies in different ethnic groups. The aim of the present study was to identify the frequency of...
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| Hauptverfasser: | , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Wolters Kluwer Medknow Publications
2024-07-01
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| Schriftenreihe: | International Journal of Preventive Medicine |
| Schlagworte: | |
| Online-Zugang: | https://journals.lww.com/10.4103/ijpvm.ijpvm_50_23 |
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