Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy.
about
Localization of the binding site of the C-terminal domain of cardiac myosin-binding protein-C on the myosin rodCoding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathyCurrent perspectives in hypertrophic cardiomyopathy with the focus on patients in the Finnish population: a review.Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes.Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathyRecurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy.Effects of pathogenic proline mutations on myosin assembly.Genetics and genotype-phenotype correlations in Finnish patients with dilated cardiomyopathySarcomeric protein mutations in dilated cardiomyopathy.Genetics of dilated cardiomyopathy.HBEGF, SRA1, and IK: Three cosegregating genes as determinants of cardiomyopathy.Bioinformatics assessment of beta-myosin mutations reveals myosin's high sensitivity to mutationsPoor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathyThe sarcomeric M-region: a molecular command center for diverse cellular processes.Cardiomyopathy mutations in the tail of β-cardiac myosin modify the coiled-coil structure and affect integration into thick filaments in muscle sarcomeres in adult cardiomyocytes.Haplotype sharing test maps genes for familial cardiomyopathies.Genomic Insights into Cardiomyopathies: A Comparative Cross-Species Review.Myosin storage myopathy mutations yield defective myosin filament assembly in vitro and disrupted myofibrillar structure and function in vivo.Increased ventilatory response to exercise in symptomatic and asymptomatic LMNA mutation carriers: a follow-up study.
P2860
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P2860
Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy.
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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name
Two novel mutations in the bet ...... d with dilated cardiomyopathy.
@en
Two novel mutations in the bet ...... d with dilated cardiomyopathy.
@nl
type
label
Two novel mutations in the bet ...... d with dilated cardiomyopathy.
@en
Two novel mutations in the bet ...... d with dilated cardiomyopathy.
@nl
prefLabel
Two novel mutations in the bet ...... d with dilated cardiomyopathy.
@en
Two novel mutations in the bet ...... d with dilated cardiomyopathy.
@nl
P2093
P2860
P50
P1476
Two novel mutations in the bet ...... d with dilated cardiomyopathy.
@en
P2093
Eeva Reissell
Kari Ylitalo
Keijo Peuhkurinen
Lauri Toivonen
Maija Kaartinen
Markku S Nieminen
Pertti Jääskeläinen
Petri Tuomainen
Raija Miettinen
Satu Kärkkäinen
P2860
P304
P356
10.1016/J.EJHEART.2004.04.017
P577
2004-12-01T00:00:00Z