Article
Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population.
Journal of translational medicine - 13 Aug 2015
Kim So Young, Kim Ah Reum, Kim Nayoung K D, Kim Min Young, Jeon Eun-Hee, Kim Bong Jik, Han Young Eun, Chang Mun Young, Park Woong-Yang, Choi Byung Yoon
Abstract excerpt
BACKGROUND: Despite the prevalence of CDH23 mutations in East Asians, its large size hinders investigation. The pathologic mutation p.P240L in CDH23 is common in East Asians. However, whether this mutation represents a common founder or a mutational hot spot is unclear. The prevalence of CDH23 mutations with prelingual severe-to-profound sporadic or autosomal recessive sensorineural hearing loss (arSNHL) is...
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