A novel mutation in phospholamban causes a mixed hypertrophic and dilated cardiomyopathy phenotype with autosomal dominant inheritance

A novel mutation in phospholamban causes a mixed hypertrophic and dilated cardiomyopathy phenotype with autosomal dominant inheritance

Xehetasun bibliografikoak
Egile Nagusiak:	Carballo, S, Blair, E, Watkins, H
Formatua:	Conference item
Argitaratua:	2004

Antzeko izenburuak

Autosomal dominant familial dilated cardiomyopathy caused by a novel mutation in phospholamban
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Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.
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Double mutations in CIS can confound genotype-phenotype correlations in hypertrophic cardiomyopathy
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Genetic clues to disease pathways in hypertrophic and dilated cardiomyopathies.
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Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.
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Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy.
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Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes
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