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Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.
Lucas, Sionne E M; Zhou, Tiger; Blackburn, Nicholas B; Mills, Richard A; Ellis, Jonathan; Leo, Paul; Souzeau, Emmanuelle; Ridge, Bronwyn; Charlesworth, Jac C; Lindsay, Richard; Craig, Jamie E; Burdon, Kathryn P.
Afiliação
  • Lucas SEM; Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
  • Zhou T; Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
  • Blackburn NB; Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
  • Mills RA; South Texas Diabetes and Obesity Institute, Department of Human Genetics, School of Medicine, University of Texas Rio Grande Valley, Brownsville, Texas, United States of America.
  • Ellis J; Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
  • Leo P; Queensland University of Technology and Translational Research Institute, Princess Alexandra Hospital, Brisbane, Queensland, Australia.
  • Souzeau E; Institute of Health and Biomedical Innovation, Queensland University of Technology, Brisbane, Queensland, Australia.
  • Ridge B; Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
  • Charlesworth JC; Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
  • Lindsay R; Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
  • Craig JE; Richard Lindsay and Associates, East Melbourne, Victoria, Australia.
  • Burdon KP; Department of Ophthalmology, Flinders University, Adelaide, South Australia, Australia.
PLoS One ; 13(6): e0199178, 2018.
Article em En | MEDLINE | ID: mdl-29924831
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polimorfismo de Nucleotídeo Único / Estudos de Associação Genética / Ceratocone Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Região como assunto: Europa / Oceania Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Polimorfismo de Nucleotídeo Único / Estudos de Associação Genética / Ceratocone Tipo de estudo: Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged País/Região como assunto: Europa / Oceania Idioma: En Ano de publicação: 2018 Tipo de documento: Article