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c.464A>G variation in the GJB2 gene is detected in a Han Chinese family

We report two heterozygous carriers of c.464A>G variation in the GJB2 gene in a Chinese pedigree. The proband with hearing loss most likely inherited the c.464A>G variation from his mother who also carries heterozygous c.79G>A variation and has normal hearing. The pathological significance...

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Detalles Bibliográficos
Autores principales:	Zhu, Gang‐Hua, Shu, Hong‐Ying, Zhou, Hai‐Yan, Chen, Yong, Zhou, Fei, Ni, Bin, Xie, Wanqin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Case Reports
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5676280/ https://www.ncbi.nlm.nih.gov/pubmed/29152271 http://dx.doi.org/10.1002/ccr3.1184

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