Structural Analysis of the Titin Gene in Hypertrophic Cardiomyopathy: Identification of a Novel Disease Gene

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, sugges...

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Veröffentlicht in:	Biochemical and biophysical research communications 1999-08, Vol.262 (2), p.411-417
Hauptverfasser:	Satoh, Manatsu, Takahashi, Megumi, Sakamoto, Tsuguya, Hiroe, Michiaki, Marumo, Fumiaki, Kimura, Akinori
Format:	Artikel
Sprache:	eng
Schlagworte:	Actinin - metabolism Amino Acid Sequence Base Sequence Cardiomyopathy, Hypertrophic - genetics Connectin Exons Humans Introns Molecular Sequence Data Muscle Proteins - genetics Muscle Proteins - metabolism Mutation Protein Binding Protein Kinases - genetics Protein Kinases - metabolism Sarcomeres - chemistry Sequence Homology, Amino Acid Species Specificity
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