错义突变
遗传学
赫尔格
长QT综合征
外显子
家族史
突变
分子遗传学
生物
基因
QT间期
医学
内科学
内分泌学
钾通道
作者
Miklós Csanády,Róbert Sepp
出处
期刊:PubMed
日期:2005-09-25
卷期号:146 (39): 2011-6
摘要
The authors demonstrate the developments of molecular genetic methods on the example of the first described Hungarian family suffering from inherited long QT (Romano-Ward) syndrome. The family belonged to the LQT2 subgroup according to both the clinical picture and the results of different molecular genetic methods from linkage mapping to sequencing. The final result of sequencing showed a missense mutation, affecting codon 568 in exon 7 of the KCNH2 (HERG) gene, leading to a tryptophan-cysteine change in the amino acid chain.
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