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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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Abe, S., Usami, S., Shinkawa, H., Kelley, P., Kimberling, W.
Format: Artigo
Sprache:Inglês
Veröffentlicht: BMJ Group 2000
Schlagworte:
Online Zugang: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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