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Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload.
McLaren, Christine E; Emond, Mary J; Subramaniam, V Nathan; Phatak, Pradyumna D; Barton, James C; Adams, Paul C; Goh, Justin B; McDonald, Cameron J; Powell, Lawrie W; Gurrin, Lyle C; Allen, Katrina J; Nickerson, Deborah A; Louie, Tin; Ramm, Grant A; Anderson, Gregory J; McLaren, Gordon D.
Afiliação
  • McLaren CE; Department of Epidemiology, University of California, Irvine, CA.
  • Emond MJ; Department of Biostatistics, University of Washington, Seattle, WA.
  • Subramaniam VN; QIMR Berghofer Medical Research Institute, Brisbane, Australia.
  • Phatak PD; Faculty of Medicine and Biomedical Sciences, The University of Queensland, Brisbane, Australia.
  • Barton JC; Rochester General Hospital, Rochester, NY.
  • Adams PC; Southern Iron Disorders Center, Birmingham, AL.
  • Goh JB; Department of Medicine, London Health Sciences Center, London, Ontario, Canada.
  • McDonald CJ; QIMR Berghofer Medical Research Institute, Brisbane, Australia.
  • Powell LW; Faculty of Medicine and Biomedical Sciences, The University of Queensland, Brisbane, Australia.
  • Gurrin LC; QIMR Berghofer Medical Research Institute, Brisbane, Australia.
  • Allen KJ; QIMR Berghofer Medical Research Institute, Brisbane, Australia.
  • Nickerson DA; Faculty of Medicine and Biomedical Sciences, The University of Queensland, Brisbane, Australia.
  • Louie T; Royal Brisbane & Women's Hospital, Brisbane, Australia.
  • Ramm GA; Center for MEGA Epidemiology, The University of Melbourne, Melbourne, Australia.
  • Anderson GJ; Murdoch Childrens Research Institute, Melbourne, Australia.
  • McLaren GD; Department of Genome Sciences, University of Washington, Seattle, WA.
Hepatology ; 62(2): 429-39, 2015 Aug.
Article em En | MEDLINE | ID: mdl-25605615

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Aciltransferases / Antígenos de Histocompatibilidade Classe I / Sobrecarga de Ferro / Hemocromatose / Proteínas de Membrana Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Humans / Male Idioma: En Revista: Hepatology Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Canadá

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Aciltransferases / Antígenos de Histocompatibilidade Classe I / Sobrecarga de Ferro / Hemocromatose / Proteínas de Membrana Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Humans / Male Idioma: En Revista: Hepatology Ano de publicação: 2015 Tipo de documento: Article País de afiliação: Canadá