A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death.
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Targets for therapy in sarcomeric cardiomyopathiesResearch priorities in sarcomeric cardiomyopathiesCompound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defectsMybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in miceGenetic advances in sarcomeric cardiomyopathies: state of the art.The clinical features, outcomes and genetic characteristics of hypertrophic cardiomyopathy patients with severe right ventricular hypertrophyEvaluation of MYBPC3 trans-Splicing and Gene Replacement as Therapeutic Options in Human iPSC-Derived Cardiomyocytes.Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.The genetics of hypertrophic cardiomyopathyHeterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure
P2860
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P2860
A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death.
description
2012 nî lūn-bûn
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2012年の論文
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name
A case of compound mutations i ...... ypertrophy and neonatal death.
@en
A case of compound mutations i ...... ypertrophy and neonatal death.
@nl
type
label
A case of compound mutations i ...... ypertrophy and neonatal death.
@en
A case of compound mutations i ...... ypertrophy and neonatal death.
@nl
prefLabel
A case of compound mutations i ...... ypertrophy and neonatal death.
@en
A case of compound mutations i ...... ypertrophy and neonatal death.
@nl
P2093
P2860
P356
P1433
P1476
A case of compound mutations i ...... hypertrophy and neonatal death
@en
P2093
Francesco Orsini
Gabriele Vignati
Laura Bandiera
Mariano Intrieri
Piera Angelica Merlini
Valentina Motta
P2860
P304
P356
10.1159/000339847
P407
P577
2012-08-17T00:00:00Z