Chemistry: molecular biology and microbiology – Measuring or testing process involving enzymes or... – Involving nucleic acid
Patent
1998-06-29
2000-05-16
Horlick, Kenneth R.
Chemistry: molecular biology and microbiology
Measuring or testing process involving enzymes or...
Involving nucleic acid
435 4, 435 5, 435 6, 435 71, 435 912, 536 221, 536 231, 536 243, 536 2433, 436518, 530350, 5303871, 5303881, C12Q 168
Patent
active
060635762
ABSTRACT:
Two mutations in the human cardiac actin gene are disclosed which have been associated with idiopathic dilated cardiomyopathy (IDC) in two families. These mutations cosegregate with IDC in the two families. Both mutations affect universally conserved amino acids in domains of actin that attach to Z bands and intercalated discs. Analysis of the cardiac actin gene can be used to determine the presence in a patient of IDC resulting from mutations in this gene. Such analysis is useful in the diagnosis and prognosis of the disease in patients with mutations in this gene.
REFERENCES:
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Keating Mark T.
Olson Thomas M.
Horlick Kenneth R.
Taylor Janell E.
University of Utah Research Foundation
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