A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.
Yingdi LiuJinjie XueZhuo LiSiyuan LinpengHu TanYanling TengDesheng LiangLingqian WuPublished in: Molecular genetics & genomic medicine (2020)
Our findings demonstrate that a novel mutation (c.605T>A) in GJB1 is associated with CMTX and adds to the repertoire of GJB1 mutations related to CMTX.
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