Hum Mol Genet. 1993 Oct;2(10):1731-2.

Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.

Moolman JC, Brink PA, Corfield VA.

University of Stellenbosch, Department of Medical Physiology and Biochemistry, Tygerberg, South Africa.

PMID: 8268932 [PubMed - indexed for MEDLINE]

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Novel missense mutation in cardiac beta myosin heavy chain gene found in a Japanese patient with hypertrophic cardiomyopathy.
Biochem Biophys Res Commun. 1992 Oct 15; 188(1):379-87.

[Biochem Biophys Res Commun. 1992]
Lack of evidence of exon 13 mutations in the beta cardiac myosin heavy chain gene with familial hypertrophic cardiomyopathy in Japan.
J Intern Med. 1993 Sep; 234(3):341-3.

[J Intern Med. 1993]
Hypertrophic cardiomyopathy: failure to demonstrate mutations in exon 13 of the cardiac beta myosin heavy-chain gene.
Basic Res Cardiol. 1992 Mar-Apr; 87(2):106-12.

[Basic Res Cardiol. 1992]
ReviewMyosin mutations in hypertrophic cardiomyopathy and functional implications.
Herz. 1994 Apr; 19(2):75-83.

[Herz. 1994]
Review[Structural analysis of cardiac beta myosin heavy chain gene in familial hypertrophic cardiomyopathy]
Nippon Rinsho. 1993 Jun; 51(6):1448-52.

[Nippon Rinsho. 1993]
» See reviews... | » See all...

Cited by 5 PubMed Central articles

The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.
Moolman-Smook JC, De Lange WJ, Bruwer EC, Brink PA, Corfield VA. Am J Hum Genet. 1999 Nov; 65(5):1308-20.

[Am J Hum Genet. 1999]
Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.
Arbustini E, Fasani R, Morbini P, Diegoli M, Grasso M, Dal Bello B, Marangoni E, Banfi P, Banchieri N, Bellini O, et al. Heart. 1998 Dec; 80(6):548-58.

[Heart. 1998]
Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy.
Moolman-Smook JC, Mayosi B, Brink P, Corfield VA. J Med Genet. 1998 Mar; 35(3):253-4.

[J Med Genet. 1998]
» See all...

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Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.

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