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

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 mutat...

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Detalhes bibliográficos
Publicado no:J Transl Med
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2015
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4534105/
https://ncbi.nlm.nih.gov/pubmed/26264712
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12967-015-0624-8
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