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Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
Thormaehlen, Aenne S; Schuberth, Christian; Won, Hong-Hee; Blattmann, Peter; Joggerst-Thomalla, Brigitte; Theiss, Susanne; Asselta, Rosanna; Duga, Stefano; Merlini, Pier Angelica; Ardissino, Diego; Lander, Eric S; Gabriel, Stacey; Rader, Daniel J; Peloso, Gina M; Pepperkok, Rainer; Kathiresan, Sekar; Runz, Heiko.
Afiliação
  • Thormaehlen AS; Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany; Molecular Medicine Partnership Unit (MMPU), University of Heidelberg/ EMBL, Heidelberg, Germany.
  • Schuberth C; Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany; Molecular Medicine Partnership Unit (MMPU), University of Heidelberg/ EMBL, Heidelberg, Germany.
  • Won HH; Center of Human Genetic Research (CHGR), Massachusetts General Hospital, Boston, Massachusetts, United States of America; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America; Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, Uni
  • Blattmann P; Molecular Medicine Partnership Unit (MMPU), University of Heidelberg/ EMBL, Heidelberg, Germany; Cell Biology/Biophysics Unit, European Molecular Biological Laboratory, Heidelberg, Germany.
  • Joggerst-Thomalla B; Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany; Molecular Medicine Partnership Unit (MMPU), University of Heidelberg/ EMBL, Heidelberg, Germany.
  • Theiss S; Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.
  • Asselta R; Humanitas University, Milan, Italy.
  • Duga S; Humanitas University, Milan, Italy.
  • Merlini PA; Division of Cardiology, Ospedale Niguarda, Milan, Italy.
  • Ardissino D; Department of Cardiology, Parma Hospital, Parma, Italy.
  • Lander ES; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America.
  • Gabriel S; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America.
  • Rader DJ; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America.
  • Peloso GM; Center of Human Genetic Research (CHGR), Massachusetts General Hospital, Boston, Massachusetts, United States of America; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America.
  • Pepperkok R; Molecular Medicine Partnership Unit (MMPU), University of Heidelberg/ EMBL, Heidelberg, Germany; Cell Biology/Biophysics Unit, European Molecular Biological Laboratory, Heidelberg, Germany.
  • Kathiresan S; Center of Human Genetic Research (CHGR), Massachusetts General Hospital, Boston, Massachusetts, United States of America; Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America; Cardiovascular Research Center, Massachusetts General Hospital, Boston, Massachusetts, Uni
  • Runz H; Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany; Molecular Medicine Partnership Unit (MMPU), University of Heidelberg/ EMBL, Heidelberg, Germany; Center of Human Genetic Research (CHGR), Massachusetts General Hospital, Boston, Massachusetts, United States of America; Broad
PLoS Genet ; 11(2): e1004855, 2015 Feb.
Article em En | MEDLINE | ID: mdl-25647241
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores de LDL / Estudos de Associação Genética / Exoma / Infarto do Miocárdio Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Receptores de LDL / Estudos de Associação Genética / Exoma / Infarto do Miocárdio Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2015 Tipo de documento: Article