Autosomal dominant familial dilated cardiomyopathy caused by a novel mutation in phospholamban

ग्रंथसूची विवरण
मुख्य लेखकों:	Carballo, S, Blair, E, Watkins, H
स्वरूप:	Conference item
प्रकाशित:	2004

A novel mutation in phospholamban causes a mixed hypertrophic and dilated cardiomyopathy phenotype with autosomal dominant inheritance
द्वारा: Carballo, S, और अन्य
प्रकाशित: (2004)

Autosomal dominant HCM and DCM phenotype caused by a novel mutation in phospholamban
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Identification and functional analysis of cardiac troponin I as a novel disease gene in autosomal dominant familial dilated cardiomyopathy
द्वारा: Carballo, S, और अन्य
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Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy.
द्वारा: Carballo, S, और अन्य
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Structures of PKA–phospholamban complexes reveal a mechanism of familial dilated cardiomyopathy
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A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy
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Novel mutations in cardiac MYBPC3 causing early onset malignant hypertrophic cardiomyopathy
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Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy.
द्वारा: Lakdawala, N, और अन्य
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Novel mutations in cardiac MYPBC3 cause early onset malignant hypertrophic cardiomyopathy (HCM)
द्वारा: Carballo, S, और अन्य
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Early onset malignant hypertrophic cardiomyopathy caused by mutations in MYBPC3
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Novel mutations in cardiac MYBPC3 and early onset malignant hypertrophic cardiomyopathy
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Functional effects of mutations in troponin T and tropomyosin which cause dilated cardiomyopathy
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Familial Dilated Cardiomyopathy Caused by an Alpha-Tropomyosin Mutation: The Distinctive Natural History of Sarcomeric DCM
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Phospholamban antisense oligonucleotides improve cardiac function in murine cardiomyopathy
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Comparison of the functional effects of mutations in troponin T which cause dilated and hypertrophic cardiomyopathies
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Structure-function relationships of eight mutations in troponin and tropomyosin that cause dilated cardiomyopathy
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Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.
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Mutation in δ-Sg Gene in Familial Dilated Cardiomyopathy
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Desmoplakin mutation underlying autosomal dominant arrhythmogenic cardiomyopathy, palmoplantar keratoderma, and curly hair
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Combination of Whole Genome Sequencing, Linkage and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy with Features of Left Ventricular Non-Compaction.
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Cardiomyopathy, familial dilated
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Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
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Novel LMNA Mutation in a Taiwanese Family with Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
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Investigation of troponin I mutations causing familial hypertrophic cardiomyopathy
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Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.
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A CRYBB2 mutation in a Taiwanese family with autosomal dominant cataract
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Autosomal dominant familial dilated cardiomyopathy caused by a novel mutation in phospholamban

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