Variable clinical manifestation of a novel missense mutation in the alpha-tropomyosin (TPM1) gene in familial hypertrophic cardiomyopathy-Reference-Cited by-同舟云学术

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

Published:2003-03 Issue:6 Volume:41 Page:981-986
ISSN:0735-1097
Container-title:Journal of the American College of Cardiology
language:en
Short-container-title:Journal of the American College of Cardiology

Author:

Jongbloed Roselie J,Marcelis Carlo L,Doevendans Pieter A,Schmeitz-Mulkens Judith M,Van Dockum Willem G,Geraedts Joep P,Smeets Hubert J

Publisher

Elsevier BV

Subject

Cardiology and Cardiovascular Medicine

Reference27 articles.

1. Hypertrophic cardiomyopathy;Maron;Lancet,1997

2. Hypertrophic cardiomyopathy;Carrier,2001

3. Pathogenesis of diverse clinical and pathological phenotypes in hypertrophic cardiomyopathy;Marian;Lancet,2000

4. Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly;Niimura;Circulation,2002

5. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome;Gollob;N Engl J Med,2001

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1. In silico and in vitro models reveal the molecular mechanisms of hypocontractility caused by TPM1 M8R;Frontiers in Physiology;2024-08-30

2. Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death;ESC Heart Failure;2024-06-14

3. Emerging Themes in Genetics of Hypertrophic Cardiomyopathy: Current Status and Clinical Application;Canadian Journal of Cardiology;2024-05

4. EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias;European Journal of Human Genetics;2023-07-13

5. MARVEL: an integrated alternative splicing analysis platform for single-cell RNA sequencing data;Nucleic Acids Research;2023-01-12

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