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A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.

作者信息

Consevage M W, Salada G C, Baylen B G, Ladda R L, Rogan P K

机构信息

Department of Pediatrics, Milton S. Hershey Medical Center, Pennsylvania State University, Hershey 17036.

出版信息

Hum Mol Genet. 1994 Jun;3(6):1025-6. doi: 10.1093/hmg/3.6.1025.

DOI:10.1093/hmg/3.6.1025
PMID:7848441
Abstract
摘要

相似文献

1
A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.家族性肥厚型心肌病患者β-心脏重链肌球蛋白基因中的一种新错义突变，即Arg719Gln。
Hum Mol Genet. 1994 Jun;3(6):1025-6. doi: 10.1093/hmg/3.6.1025.
2
Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.导致家族性肥厚型心肌病的新型β-心肌肌球蛋白重链基因突变的预后意义。
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Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.β-肌球蛋白重链基因中的错义突变导致肥厚型心肌病中的中央核病。
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Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy.
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Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure.一个家族中因β-肌球蛋白重链基因发生453Arg→Cys突变导致的恶性家族性肥厚型心肌病：猝死与终末期心力衰竭并存
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Possible gene dose effect of a mutant cardiac beta-myosin heavy chain gene on the clinical expression of familial hypertrophic cardiomyopathy.突变的心脏β-肌球蛋白重链基因对家族性肥厚型心肌病临床表型可能存在的基因剂量效应。
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Multiple disease genes cause hypertrophic cardiomyopathy.多种疾病基因会导致肥厚型心肌病。
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Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene.家族性肥厚型心肌病。微卫星单倍型分析及β-肌球蛋白重链基因突变热点的鉴定。
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Dinucleotide repeat polymorphism at the human gene for cardiac beta-myosin heavy chain (MYH6).
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Identification of a mutation near a functional site of the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy.
J Mol Cell Cardiol. 1994 Sep;26(9):1241-7. doi: 10.1006/jmcc.1994.1142.

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