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AB098. The mutation spectrum of the phenylalanine hydroxylase (PAH) gene in Taiwanese population
Phenylalanine hydroxylase (PAH) deficiency is responsible for most cases of phenylketonuria (PKU). A total of 71 PAH-deficient Taiwanese families were included for PAH gene analysis. A total 34 different mutations, including 20 missense mutations, 4 nonsense mutations, 4 deletion/insertion within st...
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| Izdano u: | Ann Transl Med |
|---|---|
| Glavni autori: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
AME Publishing Company
2015
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4563452/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB098 |
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