Article
[Detection with restriction enzyme for mutation 233delC of the connexin26 gene].
Nihon Jibiinkoka Gakkai kaiho - 1 Jul 2002
Hanamitsu Masakazu, Suzuki Mikio, Kitano Hiroya, Kitanishi Tsuyoshi
Abstract excerpt
INTRODUCTION: Connexin26, a gap junction protein that spreads in the inner ear, is thought to be mainly responsible for nonsyndromic hereditary deafness. In the Caucasian population, 30delG is the most frequent mutation. 233delC is the most frequent, however, in the Japanese population. We studied 233delC mutations with restriction enzyme Apa I. SUBJECTS: Subjects were 61 patients visiting the hospital between...
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