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Characterization of Spectrum, de novo Rate and Genotype-Phenotype Correlation of Dominant GJB2 Mutations in Chinese Hans

Dominant mutations in GJB2 may lead to various degrees of sensorineural hearing impairment and/or hyperproliferative epidermal disorders. So far studies of dominant GJB2 mutations were mostly limited to case reports of individual patients and families. In this study, we identified 7 families, 11 sub...

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Detalles Bibliográficos
Autores principales:	Pang, Xiuhong, Chai, Yongchuan, Sun, Lianhua, Chen, Dongye, Chen, Ying, Zhang, Zhihua, Wu, Hao, Yang, Tao
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4063943/ https://www.ncbi.nlm.nih.gov/pubmed/24945352 http://dx.doi.org/10.1371/journal.pone.0100483

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