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filingDate 1996-12-02-04:00^^<http://www.w3.org/2001/XMLSchema#date>
inventor http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_f3689dd550a42bf217c06d1b7a58208e
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publicationDate 2003-01-22-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber EP-0873423-A4
titleOfInvention METHOD FOR DETECTING MUTATIONS ASSOCIATED WITH HYPERTROPHER CARDIOMYOPARTY
abstract The invention pertains to methods for detecting the presence or absence of a mutation associated with hypertrophic cardiomiopathy (HC). The methods include providing DNA which encodes a cardiac myosin binding protein and detecting the presence or absence of a mutation in the amplified product which is associated with HC. The invention further pertains to methods for diagnosing HC in a subject. These methods typically include obtaining a sample of DNA which encodes a cardiac myosin binding protein from a subject being tested for FHC and diagnosing the subject for FHC by detecting the presence or absence of a mutation in the sarcomeric thin filament protein which causes FHC as an indication of the disease. Other aspects of the invention include kits useful for diagnosing HC and methods for treating HC.
priorityDate 1995-11-30-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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