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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Bibliografische gegevens
Gepubliceerd in:Ann Transl Med
Hoofdauteurs: Pai, Ju-Shan, Chen, Ya-Chi, Hsie, Shu-Chen, Yang, Chia-Feng, Niu, Dau-Ming
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: AME Publishing Company 2015
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Part 4: Oral/poster
Online toegang: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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