Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes

@article{Matsuura1994ExpressionOF,
  title={Expression of four mutant human ornithine transcarbamylase genes in cultured Cos 1 cells relates to clinical phenotypes},
  author={Toshinobu Matsuura and Ryuuji Hoshide and Chiaki Setoyama and Satoru Komaki and Koji Kiwaki and Fumio Endo and Shigeyuki Nishikawa and Ichiro Matsuda},
  journal={Human Genetics},
  year={1994},
  volume={93},
  pages={129-134}
}
Ornithine transcarbamylase (OTC) deficiency is an X-linked disease with a heterogeneous phenotype, even in affected males. To detect mutations in the OTC gene using genomic DNA, we have developed a method in which all exons and adjacent introns are amplified and sequenced. Although this approach detected mutations in many cases, the relationship between a mutation and the OTC phenotype was not firmly established. Therefore, we investigated the issue by expression analysis of mutant OTC cDNA in… CONTINUE READING