The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death af young age

The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death af young age
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DOI:
10.1016/s0002-9149(01)01532-6
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发表时间:
2001-06-01
影响因子:
2.8
通讯作者:
Christiansen, M
Christiansen, M
中科院分区:
医学3区
文献类型:
--
作者:
Havndrup, O;Bundgaard, H;Christiansen, M

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一项对已发表家族的研究显示,P-肌球蛋白重链中的瓦尔(606)Met突变具有在年轻时猝死的高风险。特定突变与某种表型的关联应基于大量的家系,以避免抽样偏倚。
A study of published families disclosed that the Val(606)Met mutation in P-myosin heavy chain carries a high risk of sudden death at a young age. The association of a specific mutation with a certain phenotype should be based on a large number of families to avoid sampling bias.