Article
The mutation spectrum of the phenylalanine hydroxylase (PAH) gene and associated haplotypes reveal ethnic heterogeneity in the Taiwanese population.
Journal of human genetics - 1 Mar 2014
Liang Ying, Huang Miao-Zeng, Cheng Cheng-Yi, Chao Hung-Kun, Fwu Victor Tramjay, Chiang Szu-Hui, Hsiao Kwang-Jen, Niu Dau-Ming, Su Tsung-Sheng
Abstract excerpt
Phenylalanine hydroxylase (PAH) deficiency is responsible for most cases of phenylketonuria (PKU). In this study of the PAH mutation spectrum in the Taiwanese population, 139 alleles were identified including 34 different mutations. The V190G, Q267R and F392I mutations are first reported in this study. The most common mutations, R241C, R408Q and Ex6-96A>G, account for 23.2%, 12.0% and 9.2%, of the mutant alleles,...
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