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rdf:type |
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lifeskim:mentions |
umls-concept:C0007194,
umls-concept:C0027119,
umls-concept:C0030705,
umls-concept:C0077404,
umls-concept:C0220908,
umls-concept:C0337810,
umls-concept:C0679199,
umls-concept:C1417523,
umls-concept:C1420192,
umls-concept:C1420562,
umls-concept:C1521991,
umls-concept:C1527178,
umls-concept:C1705938
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pubmed:issue |
8
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pubmed:dateCreated |
2006-7-21
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pubmed:abstractText |
Mutations causing hypertrophic cardiomyopathy (HCM) have been described in nine different genes of the sarcomere. Three genes account for most known mutations: beta-myosin heavy chain (MYH7), cardiac myosin binding protein C (MYBPC3) and cardiac troponin T (TNNT2). Their prevalence in Italian HCM patients is unknown. Thus, we prospectively assessed a molecular screening strategy of these three genes in a consecutive population with HCM from two Italian centres.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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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 |
1558-2027
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
7
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
601-7
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pubmed:dateRevised |
2009-5-28
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pubmed:meshHeading |
pubmed-meshheading:16858239-Cardiomyopathy, Hypertrophic,
pubmed-meshheading:16858239-Carrier Proteins,
pubmed-meshheading:16858239-Chi-Square Distribution,
pubmed-meshheading:16858239-Chromatography, High Pressure Liquid,
pubmed-meshheading:16858239-DNA Mutational Analysis,
pubmed-meshheading:16858239-Female,
pubmed-meshheading:16858239-Genotype,
pubmed-meshheading:16858239-Humans,
pubmed-meshheading:16858239-Italy,
pubmed-meshheading:16858239-Male,
pubmed-meshheading:16858239-Myosin Heavy Chains,
pubmed-meshheading:16858239-Pedigree,
pubmed-meshheading:16858239-Phenotype,
pubmed-meshheading:16858239-Polymerase Chain Reaction,
pubmed-meshheading:16858239-Polymorphism, Genetic,
pubmed-meshheading:16858239-Prevalence,
pubmed-meshheading:16858239-Prospective Studies,
pubmed-meshheading:16858239-Troponin T
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pubmed:year |
2006
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pubmed:articleTitle |
A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.
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pubmed:affiliation |
Genetic Diagnostic Unit, Azienda Ospedaliero Universitaria Careggi, Florence, Italy. citogenbibl3@ao-careggi.toscana.it
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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