脆性X综合征，一个X染色体上的基因突变，是遗传性智力障碍最常见的来源，每4000名男孩和每6000名女孩中就有一名儿童患有该症。
Fragile X syndrome, a single genetic mutation on the X chromosome, is the most common source of inherited mental impairment, affecting one in every 4,000 boys and one in every 6,000 girls.
脆性X综合征，一个X染色体上的基因突变，是遗传性智力障碍最常见的来源，每4000名男孩和每6000名女孩中就有一名儿童患有该症。
Fragile X syndrome, a single genetic mutation on the X chromosome, is the most common source of inherited mental impairment, affecting one in every 4, 000 boys and one in every 6, 000 girls.
最近，科学家发现，两种基因突变和不宁腿综合征（restlessleg syndrome ，RLS）有关，遗传这种基因突变的人更容易发生不宁腿综合征。
People who inherited the mutations are much more likely to develop restless leg syndrome, the researchers report in the journal PLoS Genetics.
方法：筛选出患长qt综合征1型的家庭成员，并鉴定KCNQ1基因中一个常染色体显性遗传突变基因(R190 Q)。
Methods We screened a family affected by long-QT syndrome type 1 and identified an autosomal dominant missense mutation (R190Q) in the KCNQ1 gene.
目的研究中国人遗传性长QT综合征3型（LQT3）相关基因SCN5A突变情况。
Objective To explore SCN5A gene mutations in Chinese patients with congenital long QT syndrome type 3 (LQT3).
鱼鳞病综合征是一组皮肤症状表现为鱼鳞病样损害的遗传性疾病，大部分由于基因突变引起。
Ichthyosis syndrome is a series of genodermatoses clinically manifested by ichthyosiform lesions. Most of them are caused by gene mutations.
特定离子通道的基因突变是产生遗传性长qt综合征的基础。
Specific ion channel mutations underline the congenital long QT syndrome (LQTS).
特定离子通道的基因突变是产生遗传性长qt综合征的基础。
Specific ion channel mutations underline the congenital long QT syndrome (LQTS).
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