C.464A>G variation in the GJB2 gene is detected in a Han Chinese family.
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ABSTRACT:
SUBMITTER: Zhu GH
PROVIDER: S-EPMC5676280 | biostudies-literature | 2017 Nov
REPOSITORIES: biostudies-literature
Publications
c.464A>G variation in the <i>GJB2</i> gene is detected in a Han Chinese family.
Zhu Gang-Hua GH Shu Hong-Ying HY Zhou Hai-Yan HY Chen Yong Y Zhou Fei F Ni Bin B Xie Wanqin W
Clinical case reports 20170915 11
We report two heterozygous carriers of c.464A>G variation in the <i>GJB2</i> 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. ...[more]
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