Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Victor Tramjay Fwu"'
Autor:
Hung-Kun Chao, Szu-Hui Chiang, Victor Tramjay Fwu, Miao-Zeng Huang, Tsung-Sheng Su, Cheng-Yi Cheng, Ying Liang, Dau-Ming Niu, Kwang-Jen Hsiao
Publikováno v:
Journal of Human Genetics. 59:145-152
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
Autor:
Sheng-Chieh Lin, Kwang-Jen Hsiao, Victor Tramjay Fwu, Tsung-Sheng Su, Miao-Zeng Huang, Po-yi Ho
Publikováno v:
Biochemical and biophysical research communications. 373(4)
To simultaneously assess the effects of exonic mutations on RNA splicing and protein functions, we report here an intron-inclusive cDNA (Intinc) expression system. As a test model, twenty-four mutations in exon 9 of the phenylalanine hydroxylase (PAH