(Q48020405)

7 February 2018

title

Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathy (English)

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7 February 2018

author name string

Roselie J Jongbloed

1

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7 February 2018

Carlo L Marcelis

2

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7 February 2018

Pieter A Doevendans

3

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7 February 2018

Judith M Schmeitz-Mulkens

4

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7 February 2018

Willem G Van Dockum

5

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7 February 2018

Joep P Geraedts

6

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7 February 2018

Hubert J Smeets

7

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7 February 2018

language of work or name

English

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publication date

1 March 2003

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7 February 2018

Journal of the American College of Cardiology

published in

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7 February 2018

volume

41

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7 February 2018

issue

6

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7 February 2018

page(s)

981-986

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7 February 2018

Hypertrophic cardiomyopathy

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2903005-X

7 January 2021

Pathogenesis of diverse clinical and pathological phenotypes in hypertrophic cardiomyopathy

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7 January 2021

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly

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7 January 2021

Identification of a gene responsible for familial Wolff-Parkinson-White syndrome

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https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2903005-X

7 January 2021

Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2903005-X

7 January 2021

Wolff-Parkinson-white syndrome: a genetic disease?

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https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2903005-X

7 January 2021

The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population.

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2903005-X

7 January 2021

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2903005-X

7 January 2021

Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2903005-X

7 January 2021

A De Novo Mutation in α-Tropomyosin That Causes Hypertrophic Cardiomyopathy

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https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2903005-X

7 January 2021

Clinical implications of hypertrophic cardiomyopathy associated with mutations in the alpha-tropomyosin gene

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https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2903005-X

7 January 2021

A Mutant Tropomyosin That Causes Hypertrophic Cardiomyopathy Is Expressed In Vivo and Associated With an Increased Calcium Sensitivity

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https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2903005-X

7 January 2021

Novel mutation in the alpha-tropomyosin gene and transition from hypertrophic to hypocontractile dilated cardiomyopathy.

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7 January 2021

Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis

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https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2903005-X

7 January 2021

Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy

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https://api.crossref.org/works/10.1016%2FS0735-1097%2802%2903005-X

7 January 2021

Development and application of linkage analysis in genetic diagnosis of familial hypertrophic cardiomyopathy

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7 January 2021

Mapping of a novel gene for familial hypertrophic cardiomyopathy to chromosome 11

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7 January 2021

Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene

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7 January 2021

A comprehensive genetic map of the human genome based on 5,264 microsatellites

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7 January 2021

Novel KCNQ1 and HERG missense mutations in Dutch long-QT families

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7 January 2021

Clinical Features of Hypertrophic Cardiomyopathy Caused by Mutation of a “Hot Spot” in the Alpha-Tropomyosin Gene

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7 January 2021

Physiological consequences of tropomyosin mutations associated with cardiac and skeletal myopathies

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7 January 2021

Deciphering the design of the tropomyosin molecule

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7 January 2021

10.1016/S0735-1097(02)03005-X

Identifiers

DOI

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7 February 2018

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7 February 2018