Functional characterization of desmin mutant p.P419S.
作者信息
Brodehl Andreas, Dieding Mareike, Cakar Hamdin, Klauke Bärbel, Walhorn Volker, Gummert Jan, Anselmetti Dario, Milting Hendrik
出版信息
Eur J Hum Genet. 2013 Jun;21(6):589-90. doi: 10.1038/ejhg.2012.212. Epub 2012 Oct 3.
Abstract
摘要
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2
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Eur J Hum Genet. 2012 Sep;20(9):984-5. doi: 10.1038/ejhg.2012.39. Epub 2012 Mar 7.
3
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.新型肌球蛋白结合蛋白 N116S 突变与致心律失常性右室心肌病相关。
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Neuromuscul Disord. 2010 Mar;20(3):178-87. doi: 10.1016/j.nmd.2010.01.001. Epub 2010 Feb 4.
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Phenotypic patterns of desminopathy associated with three novel mutations in the desmin gene.与结蛋白基因三个新突变相关的结蛋白病的表型模式
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