A large cohort study of GJB2 mutations in Japanese hearing loss patients.

@article{Tsukada2010ALC,
  title={A large cohort study of GJB2 mutations in Japanese hearing loss patients.},
  author={Keita Tsukada and Shin-Ya Nishio and Shin-ichi Usami},
  journal={Clinical genetics},
  year={2010},
  volume={78 5},
  pages={464-70}
}
GJB2 is the gene most frequently associated with hereditary hearing loss, and the GJB2 mutation spectrums vary among different ethnic groups. In this study, the mutation spectrum as well as clinical features of patients with GJB2 mutations as found in more than 1000 Japanese hearing loss families are summarized. The present results show that the frequency of GJB2 mutations in the Japanese population with hearing loss is 14.2% overall and 25.2% in patients with congenital hearing loss. c.235delC… CONTINUE READING

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