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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
1994-11-1
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pubmed:abstractText |
Mutations in the cardiac beta myosin heavy chain gene causing hypertrophic cardiomyopathy have been identified, and to assist both diagnosis and prediction of outcome attempts have been made to correlate phenotype and genotype. Two new mutations in codon 403 of the gene in three unrelated families are described and attention drawn to variable or even absent phenotypic expression in different family members.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420-1417858,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420-1552912,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420-1617762,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420-1634614,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420-1638703,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420-1975517,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420-2249844,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420-2278798,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420-2362820,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420-2523641,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420-2668874,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420-2811944,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420-2918163,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420-2942774,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420-3547130,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420-6217739,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420-6538431,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420-7981753,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420-8254035,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420-8327508,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420-8358441,
http://linkedlifedata.com/resource/pubmed/commentcorrection/7848420-8435239
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0007-0769
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
72
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pubmed:geneSymbol |
MYH7
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pubmed:owner |
NLM
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pubmed:authorsComplete |
N
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pubmed:pagination |
105-11
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pubmed:dateRevised |
2010-3-24
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pubmed:meshHeading |
pubmed-meshheading:7848420-Adult,
pubmed-meshheading:7848420-Aged,
pubmed-meshheading:7848420-Base Sequence,
pubmed-meshheading:7848420-Cardiomyopathy, Hypertrophic,
pubmed-meshheading:7848420-Carrier State,
pubmed-meshheading:7848420-Child,
pubmed-meshheading:7848420-DNA Mutational Analysis,
pubmed-meshheading:7848420-DNA Primers,
pubmed-meshheading:7848420-Echocardiography,
pubmed-meshheading:7848420-Electrocardiography,
pubmed-meshheading:7848420-Female,
pubmed-meshheading:7848420-Humans,
pubmed-meshheading:7848420-Male,
pubmed-meshheading:7848420-Middle Aged,
pubmed-meshheading:7848420-Molecular Sequence Data,
pubmed-meshheading:7848420-Mutation,
pubmed-meshheading:7848420-Myosins,
pubmed-meshheading:7848420-Pedigree,
pubmed-meshheading:7848420-Phenotype,
pubmed-meshheading:7848420-Polymerase Chain Reaction
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pubmed:year |
1994
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pubmed:articleTitle |
The electrocardiogram is a more sensitive indicator than echocardiography of hypertrophic cardiomyopathy in families with a mutation in the MYH7 gene.
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pubmed:affiliation |
Department of Biochemistry and Molecular Genetics, St Mary's Hospital Medical School, Imperial College, London.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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