Výsledky vyhledávání - "E C Consolino"

P6324Genetic spectrum of hypertrophic cardiomyopathy revisited. Whole Exome Sequencing reveals extreme genetic heterogeneity and new gene mutations in a multicenter series of 200 patients

Autor: N M Michel, J H Haentjens, Anne-Claire Casalta, K N Nguyen, S R Roche, C R T Rooryck-Thambo, E C Consolino, P C Charron, L F Faivre, Gilbert Habib, Sylvie Odent, P. Reant, C L Lavoute, Erwan Donal, Jean-Christophe Eicher

Publikováno v: European Heart Journal. 39

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::697e60fc90acb6af56372073c26f56e7
https://doi.org/10.1093/eurheartj/ehy566.p6324

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Genetic spectrum of hypertrophic cardiomyopathy revisited. Whole Exome Sequencing reveals extreme genetic heterogeneity, new gene mutations in a multicenter series of 200 patients

Autor: Karine Nguyen, Stéphane Roche, Laurence Faivre, Cécile Lavoute, Anne-Claire Casalta, E C Consolino, Caroline Rooryck-Thambo, Erwan Donal, Jean-Christophe Eicher, P. Charron, Julie Haentjens, Nicolas Michel, P. Reant, Gilbert Habib, Sylvie Odent

Publikováno v: Archives of Cardiovascular Diseases Supplements. 11:29

Background and objectives: Hypertrophic cardiomyopathy (HCM) is expected to be caused by a heterozygous mutation in one of the 5 main sarcomere genes (MYBPC3, MYH7, TNNT2, MYL2, TNNI3). However, the routine diagnostic strategy consisting of the seque

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::1d486f2c2af4bec70a81fbc0b40a8524
https://doi.org/10.1016/j.acvdsp.2018.10.059

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