Article
Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene.
Biochemical and biophysical research communications - 27 Aug 1999
Satoh M, Takahashi M, Sakamoto T, Hiroe M, Marumo F, Kimura A
Abstract excerpt
Hypertrophic cardiomyopathy (HCM) is characterized by ventricular hypertrophy accompanied by myofibrillar disarrays. Molecular genetic analyses have revealed that mutations in 8 different genes cause HCM. Mutations in these disease genes, however, could be found in about half of HCM patients, suggesting that there are other unknown disease gene(s). Because the known disease genes encode sarcomeric proteins...
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