Prevalent connexin 26 gene (GJB2) mutations in Japanese.


The gene responsible for DNFB1 and DFNA3, connexin 26 (GJB2), was recently identified and more than 20 disease causing mutations have been reported so far. This paper presents mutation analysis for GJB2 in Japanese non-syndromic hearing loss patients compatible with recessive inheritance. It was confirmed that GJB2 mutations are an important cause of… (More)


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@article{Abe2000PrevalentC2, title={Prevalent connexin 26 gene (GJB2) mutations in Japanese.}, author={S Abe and Shin-Ichi Usami and Hideichi Shinkawa and Philip M. Kelley and William J. Kimberling}, journal={Journal of medical genetics}, year={2000}, volume={37 1}, pages={41-3} }