Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.

@article{Yoshihara2000MutationsIT,
  title={Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.},
  author={Tsuyoshi Yoshihara and Matsuo Yamamoto and Manabu Doyu and Katarina Mi{\vs} and Nobutaka Hattori and Yoriyasu Hasegawa and Kenji Mokuno and Terunori Mitsuma and Gen Sobue},
  journal={Human mutation},
  year={2000},
  volume={16 2},
  pages={177-8}
}
Mutations of myelin protein zero (MPZ) and connexin32 (Cx32) genes were examined in 70 unrelated Japanese patients with Charcot-Marie-Tooth disease (CMT) without PMP22 gene duplication. A new method, which could detect base pair mismatches with Rnase cleavage on agarose gel electrophoresis, identified 5 and 4 mutations of the MPZ and Cx32 genes, respectively, including one novel mutation (Ser128Ter) of Cx32. This non-isotopic RNase cleavage assay (NIRCA) employed in the present study is very… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-9 of 9 extracted citations

Similar Papers

Loading similar papers…