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ClinVar database of global familial hypercholesterolemia-associated DNA variants.
Iacocca, Michael A; Chora, Joana R; Carrié, Alain; Freiberger, Tomás; Leigh, Sarah E; Defesche, Joep C; Kurtz, C Lisa; DiStefano, Marina T; Santos, Raul D; Humphries, Steve E; Mata, Pedro; Jannes, Cinthia E; Hooper, Amanda J; Wilemon, Katherine A; Benlian, Pascale; O'Connor, Robert; Garcia, John; Wand, Hannah; Tichy, Lukás; Sijbrands, Eric J; Hegele, Robert A; Bourbon, Mafalda; Knowles, Joshua W.
Afiliação
  • Iacocca MA; Robarts Research Institute, Western University, London, Ontario, Canada.
  • Chora JR; Instituto Nacional de Saúde Doutor Ricardo Jorge, Lisbon, Portugal.
  • Carrié A; BioISI, University of Lisbon, Lisbon, Portugal.
  • Freiberger T; Hôpitaux Universitaires Pitié-Salpêtrière/Charles-Foix, Molecular and Chromosomal Genetics Center, Obesity and Dyslipidemia Genetics Unit, Assistance Publique-Hôpitaux de Paris, Paris, France.
  • Leigh SE; Inserm, Institute of Cardiometabolism and Nutrition, Hôpital de la Pitié, Sorbonne Université, Paris, France.
  • Defesche JC; Centre for Cardiovascular Surgery and Transplantation, Brno, Czech Republic.
  • Kurtz CL; Ceitec and Medical Faculty, Masaryk University, Brno, London.
  • DiStefano MT; Genomics England, London, United Kingdom.
  • Santos RD; Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands.
  • Humphries SE; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina.
  • Mata P; Harvard Medical School, Harvard University, Boston, Massachusetts.
  • Jannes CE; Instituto do Coração, São Paulo, Brazil.
  • Hooper AJ; Centre for Cardiovascular Genetics, University College of London, London, United Kingdom.
  • Wilemon KA; Fundacion Hipercolesterolemia Familiar, Madrid, Spain.
  • Benlian P; Instituto do Coração, São Paulo, Brazil.
  • O'Connor R; PathWest Laboratory Medicine, University of Western Australia, Perth, Australia.
  • Garcia J; FH Foundation, Pasadena, California.
  • Wand H; CNRS, CHU Lille, UMR 8199 - Integrative Genomics and Metabolic Diseases Modeling, University of Lille, Lille, France.
  • Tichy L; Color Genomics, Burlingame, California.
  • Sijbrands EJ; Invitae Corporation, San Francisco, California.
  • Hegele RA; Center for Inherited Cardiovascular Disease, Stanford University, Palo Alto, California.
  • Bourbon M; Center of Molecular Biology and Gene Therapy, University Hospital Brno, Brno, Czech Republic.
  • Knowles JW; University Medical Center, Erasmus University, Rotterdam, Netherlands.
Hum Mutat ; 39(11): 1631-1640, 2018 11.
Article em En | MEDLINE | ID: mdl-30311388
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Hiperlipoproteinemia Tipo II Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Canadá
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Genoma Humano / Hiperlipoproteinemia Tipo II Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Canadá