• Methods We screened a family affected by long-QT syndrome type 1 and identified an autosomal dominant missense mutation (R190Q) in the KCNQ1 gene.

    方法筛选出患长qt综合征1家庭成员,鉴定KCNQ1基因中个常染色体显性遗传突变基因(R190 Q)。

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  • This study also found the dominant GJB2 gene mutations in three families. Finally, corrected the name of a mutation, further enriched the content of GJB2 gene mutations.

    研究同时还发现GJB2基因突变所致的三个显性遗传家系,最后一种突变命名进行了校正进一步丰富了GJB2基因突变相关内容

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  • This study also found the dominant GJB2 gene mutations in three families. Finally, corrected the name of a mutation, further enriched the content of GJB2 gene mutations.

    研究同时还发现GJB2基因突变所致的三个显性遗传家系,最后一种突变命名进行了校正进一步丰富了GJB2基因突变相关内容

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