Non-synonymous single nucleotide alterations in the microsomal epoxide hydrolase gene and their functional effects.

@article{Maekawa2003NonsynonymousSN,
  title={Non-synonymous single nucleotide alterations in the microsomal epoxide hydrolase gene and their functional effects.},
  author={Keiko Maekawa and Masaya Itoda and Nobumitsu Hanioka and Yoshiro Saito and Norie Murayama and Osamu Nakajima and Akiko Soyama and Seiichi Ishida and Shogo Ozawa and Masanori Ando and Jun ichi Sawada},
  journal={Xenobiotica; the fate of foreign compounds in biological systems},
  year={2003},
  volume={33 3},
  pages={277-87}
}
1. By sequencing genomic DNA from 72 established cell lines derived from Japanese individuals, we detected 25 single nucleotide alterations in the microsomal epoxide hydrolase (EPHX1) gene. Of them, five were exonic alterations resulting in amino acid alterations (77C>G, T26S; 128G>C, R43T; 337T>C, Y113H; 416A>G, H139R; 823A>G, T275A). The T26S, R43T, Y113H and H139R substitutions were found at relatively high frequencies and seemed to be polymorphic, and T26S and T275A were novel. 2. To… CONTINUE READING

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