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A novel de novo mutation of β-cardiac myosin heavy chain gene found in a twelve-year-old boy with hypertrophic cardiomyopathy
Journal of Genetics
◽
10.1007/s12041-014-0414-8
◽
2014
◽
Vol 93
(2)
◽
pp. 557-560
◽
Cited By ~ 4
Author(s):
SEIGO OKADA
◽
YASUO SUZUKI
◽
TAKURO ARIMURA
◽
AKINORI KIMURA
◽
HIROKO NARUMI
◽
...
Keyword(s):
Hypertrophic Cardiomyopathy
◽
Myosin Heavy Chain
◽
Heavy Chain
◽
De Novo
◽
De Novo Mutation
◽
Chain Gene
◽
Cardiac Myosin
◽
Heavy Chain Gene
◽
Myosin Heavy Chain Gene
Download Full-text
Related Documents
Cited By
References
A de novo Mutation of the Beta Cardiac Myosin Heavy Chain Gene in an Infantile Restrictive Cardiomyopathy
Congenital Heart Disease
◽
10.1111/j.1747-0803.2008.00165.x
◽
2008
◽
Vol 3
(2)
◽
pp. 138-143
◽
Cited By ~ 23
Author(s):
Simon Karam
◽
Marie-Josée Raboisson
◽
Corinne Ducreux
◽
Lara Chalabreysse
◽
Gilles Millat
◽
...
Keyword(s):
Myosin Heavy Chain
◽
Heavy Chain
◽
De Novo
◽
Restrictive Cardiomyopathy
◽
De Novo Mutation
◽
Chain Gene
◽
Cardiac Myosin
◽
Heavy Chain Gene
◽
Myosin Heavy Chain Gene
Download Full-text
A molecular basis for familial hypertrophic cardiomyopathy: a β cardiac myosin heavy chain gene missense mutation
Trends in Genetics
◽
10.1016/0168-9525(90)90273-9
◽
1990
◽
Vol 6
◽
pp. 349
Keyword(s):
Hypertrophic Cardiomyopathy
◽
Myosin Heavy Chain
◽
Missense Mutation
◽
Heavy Chain
◽
Molecular Basis
◽
Familial Hypertrophic Cardiomyopathy
◽
Chain Gene
◽
Cardiac Myosin
◽
Heavy Chain Gene
◽
Myosin Heavy Chain Gene
Download Full-text
A molecular basis for familial hypertrophic cardiomyopathy: A β cardiac myosin heavy chain gene missense mutation
Cell
◽
10.1016/0092-8674(90)90274-i
◽
1990
◽
Vol 62
(5)
◽
pp. 999-1006
◽
Cited By ~ 867
Author(s):
Anja A.T. Geisterfer-Lowrance
◽
Susan Kass
◽
Gary Tanigawa
◽
Hans-Peter Vosberg
◽
William McKenna
◽
...
Keyword(s):
Hypertrophic Cardiomyopathy
◽
Myosin Heavy Chain
◽
Missense Mutation
◽
Heavy Chain
◽
Molecular Basis
◽
Familial Hypertrophic Cardiomyopathy
◽
Chain Gene
◽
Cardiac Myosin
◽
Heavy Chain Gene
◽
Myosin Heavy Chain Gene
Download Full-text
Missense mutation of the β-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy
American Journal of Medical Genetics
◽
10.1002/ajmg.1320580314
◽
1995
◽
Vol 58
(3)
◽
pp. 267-276
◽
Cited By ~ 16
Author(s):
Shoichi Arai
◽
Rumiko Matsuoka
◽
Kenji Hirayama
◽
Hisanao Sakurai
◽
Masaharu Tamura
◽
...
Keyword(s):
Hypertrophic Cardiomyopathy
◽
Myosin Heavy Chain
◽
Missense Mutation
◽
Heavy Chain
◽
Chain Gene
◽
Cardiac Myosin
◽
Heavy Chain Gene
◽
Myosin Heavy Chain Gene
Download Full-text
Novel cardiac ?-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy
Human Mutation
◽
10.1002/1098-1004(200006)15:6<584::aid-humu25>3.0.co;2-r
◽
2000
◽
Vol 15
(6)
◽
pp. 584-584
◽
Cited By ~ 6
Author(s):
Ryuichiro Anan
◽
Hirohisa Shono
◽
Chuwa Tei
Keyword(s):
Hypertrophic Cardiomyopathy
◽
Myosin Heavy Chain
◽
Heavy Chain
◽
Familial Hypertrophic Cardiomyopathy
◽
Chain Gene
◽
Missense Mutations
◽
Cardiac Myosin
◽
Heavy Chain Gene
◽
Myosin Heavy Chain Gene
Download Full-text
Identification of a Mutation Near a Functional Site of the β cardiac myosin Heavy Chain Gene in a Family with Hypertrophic Cardiomyopathy
Journal of Molecular and Cellular Cardiology
◽
10.1006/jmcc.1994.1142
◽
1994
◽
Vol 26
(9)
◽
pp. 1241-1247
◽
Cited By ~ 13
Author(s):
Cécile Dufour
◽
Eric Dausse
◽
Luc Fetler
◽
Olivier Dubourg
◽
Jean-Brieux Bouhour
◽
...
Keyword(s):
Hypertrophic Cardiomyopathy
◽
Myosin Heavy Chain
◽
Heavy Chain
◽
Functional Site
◽
Chain Gene
◽
Cardiac Myosin
◽
Heavy Chain Gene
◽
Myosin Heavy Chain Gene
Download Full-text
A novel missense mutation (R712L) adjacent to the ?active thiol? region of the cardiac ?-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family
Human Mutation
◽
10.1002/(sici)1098-1004(200003)15:3<298::aid-humu22>3.0.co;2-7
◽
2000
◽
Vol 15
(3)
◽
pp. 298-299
◽
Cited By ~ 3
Author(s):
Sadayappan Sakthivel
◽
Pulavelil Kurian Joseph
◽
Jagan Mohan Tharakan
◽
Hans-Peter Vosberg
◽
Chellam Rajamanickam
Keyword(s):
Hypertrophic Cardiomyopathy
◽
Myosin Heavy Chain
◽
Missense Mutation
◽
Heavy Chain
◽
Chain Gene
◽
Cardiac Myosin
◽
Heavy Chain Gene
◽
Myosin Heavy Chain Gene
◽
Indian Family
Download Full-text
Hypertrophic cardiomyopathy: failure to demonstrate mutations in exon 13 of the cardiac ? myosin heavy-chain gene
Basic Research in Cardiology
◽
10.1007/bf00801958
◽
1992
◽
Vol 87
(2)
◽
pp. 106-112
◽
Cited By ~ 1
Author(s):
E. Friedman
◽
J. O. Gordeladze
◽
P. V. Gejman
◽
J. J. Murtagh
◽
D. S. Gertch
◽
...
Keyword(s):
Hypertrophic Cardiomyopathy
◽
Myosin Heavy Chain
◽
Heavy Chain
◽
Chain Gene
◽
Cardiac Myosin
◽
Heavy Chain Gene
◽
Myosin Heavy Chain Gene
Download Full-text
Noncompaction of the Ventricular Myocardium Is Associated with a De Novo Mutation in the β-Myosin Heavy Chain Gene
PLoS ONE
◽
10.1371/journal.pone.0001362
◽
2007
◽
Vol 2
(12)
◽
pp. e1362
◽
Cited By ~ 77
Author(s):
Birgit S. Budde
◽
Priska Binner
◽
Stephan Waldmüller
◽
Wolfgang Höhne
◽
Wulf Blankenfeldt
◽
...
Keyword(s):
Myosin Heavy Chain
◽
Heavy Chain
◽
De Novo
◽
Ventricular Myocardium
◽
De Novo Mutation
◽
Chain Gene
◽
Heavy Chain Gene
◽
Myosin Heavy Chain Gene
Download Full-text
Analyses of cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy
Journal of Molecular and Cellular Cardiology
◽
10.1016/0022-2828(92)90088-h
◽
1992
◽
Vol 24
◽
pp. 19
Author(s):
Christine Seidman
◽
Hugh Watkins
◽
Ludwig Thierfelder
◽
Ted Love
◽
Dar-San Hwang
◽
...
Keyword(s):
Hypertrophic Cardiomyopathy
◽
Myosin Heavy Chain
◽
Heavy Chain
◽
Gene Mutations
◽
Familial Hypertrophic Cardiomyopathy
◽
Chain Gene
◽
Cardiac Myosin
◽
Heavy Chain Gene
◽
Myosin Heavy Chain Gene
Download Full-text
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