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First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population
INTRODUCTION: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (PAH) gene. Most of the PAH mutations are missense mutations (67%), which are followed by small or large deletions (13%). CASE PRESENTATION...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Kowsar
2016
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862320/ https://www.ncbi.nlm.nih.gov/pubmed/27175306 http://dx.doi.org/10.5812/ircmj.21633 |