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A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.

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作者单位: Laboratory of Molecular Biology, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland. gtruszkowska@ikard.pl. [1] Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland. zbilinska@ikard.pl. [2] Department of Medical Genetics, Warsaw Medical University, ul. Pawińskiego 3C, 02-106, Warszawa, Poland. samocko@wp.pl. [3] Department of Cardiomyopathies, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland. j.sleszycka@ikard.pl. [4] Department of Medical Genetics, Warsaw Medical University, ul. Pawińskiego 3C, 02-106, Warszawa, Poland. mrydzanicz@wum.edu.pl. [5] Department of Heart Failure and Transplantology, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland. msobieszczanska@ikard.pl. [6] Laboratory of Molecular Biology, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland. m.fran@wp.pl. [7] Department of Arrhythmia, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland. m.bilinska@ikard.pl. [8] Department of Immunology, Center for Biostructure Research, Medical University of Warsaw, Warszawa, Poland. stawinski@g.pl. [9] Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland. e.michalak@ikard.pl. [10] Department of Interventional Cardiology and Angiology, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland. l.malek@ikard.pl. [11] Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland. p.chmielewski@ikard.pl. [12] Unit for Screening Studies in Inherited Cardiovascular Diseases, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland. bfn@ikard.pl. [13] Department of Immunology, Center for Biostructure Research, Medical University of Warsaw, Warszawa, Poland. marcin.m.machnicki@gmail.com. [14] Department of Immunology, Center for Biostructure Research, Medical University of Warsaw, Warszawa, Poland. tomasz.stoklosa@wum.edu.pl. [15] Laboratory of Molecular Biology, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland. j.poninska@ikard.pl. [16] Department of Arrhythmia, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland. l.szumowski@ikard.pl. [17] Department of Cardiomyopathies, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland. j.grzybowski@ikard.pl. [18] Department of Epidemiology, Cardiovascular Diseases Prevention and Promotion of Health, Institute of Cardiology, ul. Niemodlińska 33, 04-635, Warszawa, Poland. j.piwonski@ikard.pl. [19] Department of Epidemiology, Cardiovascular Diseases Prevention and Promotion of Health, Institute of Cardiology, ul. Niemodlińska 33, 04-635, Warszawa, Poland. w.drygas@ikard.pl. [20] Department of Heart Failure and Transplantology, Institute of Cardiology, ul. Alpejska 42, 04-628, Warszawa, Poland. t.zielinski@ikard.pl. [21] Department of Medical Genetics, Warsaw Medical University, ul. Pawińskiego 3C, 02-106, Warszawa, Poland. rploski@wp.pl. [22]
DOI 10.1186/s12881-015-0167-0
PMID 25928149
发布时间 2018-11-13
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