Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation.
about
Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathyAbnormal contractile properties of muscle fibers expressing beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathyImportance of genetic evaluation and testing in pediatric cardiomyopathyCryo-EM structure of a human cytoplasmic actomyosin complex at near-atomic resolutionCardiac troponin T Arg92Trp mutation and progression from hypertrophic to dilated cardiomyopathyMapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11Shared genetic causes of cardiac hypertrophy in children and adultsFounder mutations in hypertrophic cardiomyopathy patients in the NetherlandsQT dispersion in alpha-myosin heavy-chain familial hypertrophic cardiomyopathy miceMolecular genetic dissection of mouse unconventional myosin-VA: head region mutationsElectrophysiological abnormalities and arrhythmias in alpha MHC mutant familial hypertrophic cardiomyopathy miceRisk stratification for sudden cardiac death in hypertrophic cardiomyopathy: systematic review of clinical risk markers.Sudden cardiac death in patients with hypertrophic cardiomyopathy: from bench to bedside with an emphasis on genetic markers.Hypertrophic cardiomyopathy: evaluation and treatment of patients at high risk for sudden death.The electrocardiogram is a more sensitive indicator than echocardiography of hypertrophic cardiomyopathy in families with a mutation in the MYH7 geneFamilial hypertrophic cardiomyopathy owing to double heterozygosity for a 403Arg--> Trp mutation in exon 13 of the MYH7 gene and a novel mutation, 453Arg--> His, in exon 14 of the MYH7 gene: A case report.A transgenic rabbit model for human hypertrophic cardiomyopathy.Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene.The molecular genetic basis for hypertrophic cardiomyopathy.Molecular genetics and pathogenesis of hypertrophic cardiomyopathy.Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy.Genomics and the pathophysiology of heart failure.Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathyModifier genes for hypertrophic cardiomyopathyTherapeutic potential of c-Myc inhibition in the treatment of hypertrophic cardiomyopathy.Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathyMutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.Cell-intrinsic functional effects of the α-cardiac myosin Arg-403-Gln mutation in familial hypertrophic cardiomyopathy.Genetic basis for hypertrophic cardiomyopathy: implications for diagnosis and treatment.Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathyA familial hypertrophic cardiomyopathy locus maps to chromosome 15q2.Clinical and prognostic evaluation of familial hypertrophic cardiomyopathy in two South African families with different cardiac beta myosin heavy chain gene mutations.Genetic testing for familial hypertrophic cardiomyopathy in newborn infants.Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic CardiomyopathyFunctional analysis of the mutations in the human cardiac beta-myosin that are responsible for familial hypertrophic cardiomyopathy. Implication for the clinical outcomeInterventional treatments for hypertrophic cardiomyopathy.Molecular basis of hypertrophic and dilated cardiomyopathyHereditary dilated cardiomyopathy.Multiple disease genes cause hypertrophic cardiomyopathy.
P2860
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P2860
Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation.
description
1992 nî lūn-bûn
@nan
1992 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Differences in clinical expres ...... and a 403Arg----Gln mutation.
@ast
Differences in clinical expres ...... and a 403Arg----Gln mutation.
@en
type
label
Differences in clinical expres ...... and a 403Arg----Gln mutation.
@ast
Differences in clinical expres ...... and a 403Arg----Gln mutation.
@en
prefLabel
Differences in clinical expres ...... and a 403Arg----Gln mutation.
@ast
Differences in clinical expres ...... and a 403Arg----Gln mutation.
@en
P2093
P356
P1433
P1476
Differences in clinical expres ...... and a 403Arg----Gln mutation.
@en
P2093
P304
P356
10.1161/01.CIR.86.2.345
P407
P577
1992-08-01T00:00:00Z