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
Descripción
Sumario: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 of c.464A>G variation remains to be determined.

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