换一批
换一批Targeted capture sequencing in a large LQTS family reveals a new pathogenic mutation c.2038delG in KCNH2 initially missed due to allelic dropout.
作者：
主题词
等位基因(Alleles);DNA(DNA);DNA突变分析(DNA Mutational Analysis);心电描记术(Electrocardiography);快速延迟整流钾通道(Ether-A-Go-Go Potassium Channels);女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);基因检测(Genetic Testing);基因型(Genotype);人类(Humans);QT延长综合征(Long QT Syndrome);中年人(Middle Aged);突变(Mutation);系谱(Pedigree)
DOI
10.2143/AC.70.6.3120197
PMID
26717233
发布时间
2017-05-11
- 浏览7
Acta cardiologica
747-9页
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