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A glimpse into multigene rare variant genetics: triple mutations in hypertrophic cardiomyopathy.

作者信息

Hershberger Ray E

出版信息

J Am Coll Cardiol. 2010 Apr 6;55(14):1454-5. doi: 10.1016/j.jacc.2009.12.025.

DOI:10.1016/j.jacc.2009.12.025
PMID:20359595
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2915403/
Abstract
摘要

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本文引用的文献

1
Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.与三肌节蛋白基因突变相关的肥厚型心肌病的临床特征和结局。
J Am Coll Cardiol. 2010 Apr 6;55(14):1444-53. doi: 10.1016/j.jacc.2009.11.062.
2
Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy.遗传性心肌病的进展：扩张型、肥厚型和致心律失常性右室发育不良/心肌病的筛查、咨询与检测
Circ Heart Fail. 2009 May;2(3):253-61. doi: 10.1161/CIRCHEARTFAILURE.108.817346.
3
Targeted capture and massively parallel sequencing of 12 human exomes.12个人类外显子组的靶向捕获和大规模平行测序
Nature. 2009 Sep 10;461(7261):272-6. doi: 10.1038/nature08250. Epub 2009 Aug 16.
4
Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.从 313 名家族性或特发性扩张型心肌病患者中鉴定出 MYH7、TNNT2、SCN5A、CSRP3、LBD3 和 TCAP 的编码序列突变。
Clin Transl Sci. 2008 May;1(1):21-6. doi: 10.1111/j.1752-8062.2008.00017.x.
5
Human genetic variation and its contribution to complex traits.人类遗传变异及其对复杂性状的贡献。
Nat Rev Genet. 2009 Apr;10(4):241-51. doi: 10.1038/nrg2554.
6
Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy.对324名患有特发性或家族性扩张型心肌病的无血缘关系患者进行的核纤层蛋白A/C突变分析。
Am Heart J. 2008 Jul;156(1):161-9. doi: 10.1016/j.ahj.2008.01.026. Epub 2008 Mar 12.
7
Common and rare variants in multifactorial susceptibility to common diseases.常见疾病多因素易感性中的常见和罕见变异。
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The diploid genome sequence of an individual human.某个人类个体的二倍体基因组序列。
PLoS Biol. 2007 Sep 4;5(10):e254. doi: 10.1371/journal.pbio.0050254.
9
Genome-wide mapping of modifier chromosomal loci for human hypertrophic cardiomyopathy.人类肥厚型心肌病修饰染色体位点的全基因组图谱绘制。
Hum Mol Genet. 2007 Oct 15;16(20):2463-71. doi: 10.1093/hmg/ddm202. Epub 2007 Jul 25.
10
Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.肥厚型心肌病患者的复合和双重突变：对基因检测和咨询的意义
J Med Genet. 2005 Oct;42(10):e59. doi: 10.1136/jmg.2005.033886.