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High-throughput screening for GJB2 mutations—its clinical application to genetic testing in prelingual deafness screening for GJB2 mutations

✍ Scribed by Akemi Sugata; Kunihiro Fukushima; Ken-ichi Sugata; Syouichiro Fukuda; Nobuhiko Kimura; Mehmet Gunduz; Norio Kasai; Shinichi Usami; Richard J.H Smith; Kazunori Nishizaki


Book ID
117544801
Publisher
Elsevier Science
Year
2002
Tongue
English
Weight
371 KB
Volume
29
Category
Article
ISSN
0385-8146

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## Communicated by Mark H. Paalman Mutations in the gene GJB2 encoding connexin 26 (Cx26), a gap junction protein, have been shown to be responsible for a majority of recessive nonsyndromic hereditary hearing impairment in children. Over 60 different mutations in Cx26 have been reported. To obviat