Article
Prevalent SLC26A4 mutations in patients with enlarged vestibular aqueduct and/or Mondini dysplasia: a unique spectrum of mutations in Taiwan, including a frequent founder mutation.
The Laryngoscope - 1 Jun 2005
Wu Chen-Chi, Yeh Te-Huei, Chen Pei-Jer, Hsu Chuan-Jen
Abstract excerpt
OBJECTIVES/HYPOTHESIS: The purpose of the study is to elucidate the mutation spectrum of SLC26A4 among patients with enlarged vestibular aqueduct and/or Mondini dysplasia in Taiwan and to explore the origin of the most common mutation, IVS7-2A>G. The correlation between the genotypes and the phenotypes is also investigated, with special emphasis placed on comparison between the genotypes and hearing levels. STUDY...
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