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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 con...

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書誌詳細
主要な著者: Abe, S., Usami, S., Shinkawa, H., Kelley, P., Kimberling, W.
フォーマット: Artigo
言語:Inglês
出版事項: BMJ Group 2000
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734448/
https://ncbi.nlm.nih.gov/pubmed/10633133
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.1.41
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