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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3662675/
https://www.ncbi.nlm.nih.gov/pubmed/23717403
http://dx.doi.org/10.1371/journal.pone.0063231

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3662675/
https://www.ncbi.nlm.nih.gov/pubmed/23717403
http://dx.doi.org/10.1371/journal.pone.0063231

Ejemplares similares