Article
High-throughput screening for GJB2 mutations--its clinical application to genetic testing in prelingual deafness screening for GJB2 mutations.
Auris, nasus, larynx - 1 Jul 2002
Sugata Akemi, Fukushima Kunihiro, Sugata Ken-ichi, Fukuda Syouichiro, Kimura Nobuhiko, Gunduz Mehmet, Kasai Norio, Usami Shinichi, Smith Richard J H, Nishizaki Kazunori
Abstract excerpt
OBJECTIVES: Mutations in connexin26 (GJB2) are one of the most frequent causes of prelingual hearing impairment. Several different types of one-base deletions in exon2 were the most common type of GJB2 mutation regardless of ethnicity, including 35delG in American-European populations, 235delC in Japanese population and 167delT in Ashkenazi Jewish population. Various types of one-base substitutions were also...
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