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Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.
Tanigawa, Yosuke; Wainberg, Michael; Karjalainen, Juha; Kiiskinen, Tuomo; Venkataraman, Guhan; Lemmelä, Susanna; Turunen, Joni A; Graham, Robert R; Havulinna, Aki S; Perola, Markus; Palotie, Aarno; Daly, Mark J; Rivas, Manuel A.
Afiliação
  • Tanigawa Y; Department of Biomedical Data Science, School of Medicine, Stanford University, Stanford, California, United States of America.
  • Wainberg M; Department of Biomedical Data Science, School of Medicine, Stanford University, Stanford, California, United States of America.
  • Karjalainen J; Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute of Harvard and MIT, Cambridge, Massachusetts, United States of America.
  • Kiiskinen T; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts, United States of America.
  • Venkataraman G; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
  • Lemmelä S; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
  • Turunen JA; Finnish Institute for Health and Welfare, Helsinki, Finland.
  • Graham RR; Department of Biomedical Data Science, School of Medicine, Stanford University, Stanford, California, United States of America.
  • Havulinna AS; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
  • Perola M; Finnish Institute for Health and Welfare, Helsinki, Finland.
  • Palotie A; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Daly MJ; Maze Therapeutics, South San Francisco, California, United States of America.
  • Rivas MA; Institute for Molecular Medicine Finland (FIMM), University of Helsinki, Helsinki, Finland.
PLoS Genet ; 16(5): e1008682, 2020 05.
Article em En | MEDLINE | ID: mdl-32369491

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glaucoma / Polimorfismo de Nucleotídeo Único / Proteínas Semelhantes a Angiopoietina / Pressão Intraocular Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Glaucoma / Polimorfismo de Nucleotídeo Único / Proteínas Semelhantes a Angiopoietina / Pressão Intraocular Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Região como assunto: Europa Idioma: En Revista: PLoS Genet Assunto da revista: GENETICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Estados Unidos