(Q43668587)

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Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population

scientific article published on 2 April 2012

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PubMed publication ID

25 November 2017

Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population (English)

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Europe PubMed Central

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25 November 2017

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hypertrophic cardiomyopathy

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based on heuristic

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Tiina Heliö

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9

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Markku Laakso

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25 November 2017

Johanna Kuusisto

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Johanna Kuusisto

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Mikko Pietilä

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Pertti Jääskeläinen

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Pertti Jääskeläinen

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Maija A Kaartinen

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Maija Kaartinen

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Katriina Aalto-Setälä

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Katriina Aalto-Setälä

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Erkki Ilveskoski

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Erkki Ilveskoski

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Liisa Hämäläinen

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Liisa Hämäläinen

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John Melin

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Markku S Nieminen

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FinHCM study group

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Helena Kervinen

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Juha Mustonen

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Jukka Juvonen

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Mari Niemi

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Paavo Uusimaa

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Matti Huttunen

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Matti Kotila

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25 November 2017

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publication date

2 April 2012

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25 November 2017

Annals of Medicine

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25 November 2017

45

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1

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85-90

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25 November 2017

Mutation type is not clinically useful in predicting prognosis in hypertrophic cardiomyopathy.

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2012.671534

21 January 2018

Genetics and clinical destiny: improving care in hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2012.671534

21 January 2018

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2012.671534

21 January 2018

Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2012.671534

21 January 2018

A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2012.671534

21 January 2018

Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2012.671534

21 January 2018

Lifelong left ventricular remodeling of hypertrophic cardiomyopathy caused by a founder frameshift deletion mutation in the cardiac Myosin-binding protein C gene among Japanese

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2012.671534

21 January 2018

The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2012.671534

21 January 2018

High prevalence of four long QT syndrome founder mutations in the Finnish population

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2012.671534

21 January 2018

Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2012.671534

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2012.671534

21 January 2018

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/10.3109%2F07853890.2012.671534

21 January 2018

Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2012.671534

21 January 2018

American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the Euro

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2012.671534

21 January 2018

Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2012.671534

21 January 2018

Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2012.671534

21 January 2018

Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2012.671534

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2012.671534

21 January 2018

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

1 reference

https://api.crossref.org/works/10.3109%2F07853890.2012.671534

21 January 2018

Identifiers

10.3109/07853890.2012.671534

1 reference

Europe PubMed Central

PubMed publication ID

25 November 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

25 November 2017

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