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Annals of Medicine Volume 46, 2014 - Issue 6
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Research Article

A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy

Pertti JääskeläinenHeart Center,Kuopio University Hospital, Kuopio, Finland
,
Tiina HeliöHeart Center, Helsinki University Central Hospital, Helsinki, Finland
,
Katriina Aalto-SetäläHeart Center Co., Tampere University Hospital, Tampere, Finland;Institute of Biomedical Technology, University of Tampere, Tampere, Finland
,
Maija KaartinenHeart Center, Helsinki University Central Hospital, Helsinki, Finland
,
Erkki IlveskoskiHeart Center Co., Tampere University Hospital, Tampere, Finland
,
Liisa HämäläinenVaasa Central Hospital, Vaasa, Finland
,
John MelinCentral Finland Central Hospital, Jyväskylä, Finland
,
Satu KärkkäinenHeart Center,Kuopio University Hospital, Kuopio, Finland
,
Keijo PeuhkurinenDepartment of Medicine/Center for Medicine and Clinical Research, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland
,
Markku S. NieminenHeart Center, Helsinki University Central Hospital, Helsinki, Finland
,
Markku LaaksoDepartment of Medicine/Center for Medicine and Clinical Research, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland
, the Finhcm Study Group &
Johanna KuusistoDepartment of Medicine/Center for Medicine and Clinical Research, University of Eastern Finland and Kuopio University Hospital, Kuopio, FinlandCorrespondence[email protected]
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Pages 424-429 | Received 07 Oct 2013, Accepted 04 Apr 2014, Published online: 03 Jun 2014

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Johanna Kuusisto, Petri Sipola, Pertti Jääskeläinen & Anita Naukkarinen. (2016) Current perspectives in hypertrophic cardiomyopathy with the focus on patients in the Finnish population: a review. Annals of Medicine 48:7, pages 496-508.
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Articles from other publishers (8)

A.J. Marian. (2021) Molecular Genetic Basis of Hypertrophic Cardiomyopathy. Circulation Research 128:10, pages 1533-1553.
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Pertti Jääskeläinen, Jagadish Vangipurapu, Joose Raivo, Teemu Kuulasmaa, Tiina Heliö, Katriina Aalto‐Setälä, Maija Kaartinen, Erkki Ilveskoski, Sari Vanninen, Liisa Hämäläinen, John Melin, Jorma Kokkonen, Markku S. Nieminen, Markku Laakso & Johanna Kuusisto. (2019) Genetic basis and outcome in a nationwide study of Finnish patients with hypertrophic cardiomyopathy. ESC Heart Failure 6:2, pages 436-445.
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Kristiina Avela, Eeva-Marja Sankila, Sanna Seitsonen, Liina Kuuluvainen, Stephanie Barton, Stuart Gillies & Kristiina Aittomäki. (2018) A founder mutation in CERKL is a major cause of retinal dystrophy in Finland . Acta Ophthalmologica 96:2, pages 183-191.
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I. H. M. van der Linde, Y. L. Hiemstra, R. Bökenkamp, A. M. van Mil, M. H. Breuning, C. Ruivenkamp, S. W. ten Broeke, R. F. Veldkamp, J. I. van Waning, M. A. van Slegtenhorst, K. Y. van Spaendonck-Zwarts, R. H. Lekanne Deprez, J. C. Herkert, L. Boven, P. A. van der Zwaag, J. D. H. Jongbloed, M. Bootsma & D. Q. C. M. Barge-Schaapveld. (2017) A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects. Netherlands Heart Journal 25:12, pages 675-681.
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Marisa Ojala, Chandra Prajapati, Risto-Pekka Pölönen, Kristiina Rajala, Mari Pekkanen-Mattila, Jyrki Rasku, Kim Larsson & Katriina Aalto-Setälä. (2016) Mutation-Specific Phenotypes in hiPSC-Derived Cardiomyocytes Carrying Either Myosin-Binding Protein C Or α -Tropomyosin Mutation for Hypertrophic Cardiomyopathy . Stem Cells International 2016, pages 1-16.
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Andrey S. Glotov, Sergey V. Kazakov, Elena A. Zhukova, Anton V. Alexandrov, Oleg S. Glotov, Vladimir S. Pakin, Maria M. Danilova, Irina V. Poliakova, Svetlana S. Niyazova, Natalia N. Chakova, Svetlana M. Komissarova, Elena A. Kurnikova, Andrey M. Sarana, Sergey G. Sherbak, Alexey A. Sergushichev, Anatoly A. Shalyto & Vladislav S. Baranov. (2015) Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group. Clinica Chimica Acta 446, pages 132-140.
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Li-Yen R. Hu, Maegen A. Ackermann & Aikaterini Kontrogianni-Konstantopoulos. (2015) The Sarcomeric M-Region: A Molecular Command Center for Diverse Cellular Processes. BioMed Research International 2015, pages 1-25.
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Thomas J. Cahill & Katja Gehmlich. 2015. Cardiac Cytoarchitecture. Cardiac Cytoarchitecture 227 243 .

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