Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation

The present study of KCNQ4 mutations was carried out to 1) determine the prevalence by unbiased population-based genetic screening, 2) clarify the mutation spectrum and genotype/phenotype correlations, and 3) summarize clinical characteristics. In addition, a review of the reported mutations was per...

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Bibliografski detalji
Glavni autori: Naito, Takehiko, Nishio, Shin-ya, Iwasa, Yoh-ichiro, Yano, Takuya, Kumakawa, Kozo, Abe, Satoko, Ishikawa, Kotaro, Kojima, Hiromi, Namba, Atsushi, Oshikawa, Chie, Usami, Shin-ichi
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2013
Teme:
Research Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3662675/
https://ncbi.nlm.nih.gov/pubmed/23717403
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0063231
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