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Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.
Javadiyan, Shari; Craig, Jamie E; Souzeau, Emmanuelle; Sharma, Shiwani; Lower, Karen M; Pater, John; Casey, Theresa; Hodson, Trevor; Burdon, Kathryn P.
Afiliação
  • Javadiyan S; Department of Ophthalmology, School of Medicine, Flinders Medical Centre, Flinders University, Rm 4D 111.1, Flinders Dr, Bedford Park, Adelaide, 5042, Australia. shahra_80@yahoo.com.
  • Craig JE; Department of Ophthalmology, School of Medicine, Flinders Medical Centre, Flinders University, Rm 4D 111.1, Flinders Dr, Bedford Park, Adelaide, 5042, Australia. jamie.craig@flinders.edu.au.
  • Souzeau E; Department of Ophthalmology, School of Medicine, Flinders Medical Centre, Flinders University, Rm 4D 111.1, Flinders Dr, Bedford Park, Adelaide, 5042, Australia. Emmanuelle.Souzeau@flinders.edu.au.
  • Sharma S; Department of Ophthalmology, School of Medicine, Flinders Medical Centre, Flinders University, Rm 4D 111.1, Flinders Dr, Bedford Park, Adelaide, 5042, Australia. shiwani.sharma@flinders.edu.au.
  • Lower KM; Department of Haematology and Genetic Pathology, School of Medicine, Flinders University, Adelaide, Australia. karen.lower@flinders.edu.au.
  • Pater J; Ophthalmology Department, Women's and Children's Hospital, Adelaide, Australia. john.pater@health.sa.gov.au.
  • Casey T; Ophthalmology Department, Women's and Children's Hospital, Adelaide, Australia. TCasey@theresacasey.com.au.
  • Hodson T; Mt Gambier Eye Centre, Mt Gambier, SA, Australia. doctiny@bigpond.com.
  • Burdon KP; Department of Ophthalmology, School of Medicine, Flinders Medical Centre, Flinders University, Rm 4D 111.1, Flinders Dr, Bedford Park, Adelaide, 5042, Australia. kathryn.burdon@utas.edu.au.
BMC Res Notes ; 9: 83, 2016 Feb 11.
Article em En | MEDLINE | ID: mdl-26867756

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Predisposição Genética para Doença / Alfa-Cristalinas / Padrões de Herança / Estudos de Associação Genética / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: BMC Res Notes Ano de publicação: 2016 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Predisposição Genética para Doença / Alfa-Cristalinas / Padrões de Herança / Estudos de Associação Genética / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adolescent / Aged / Child / Female / Humans / Male / Middle aged Idioma: En Revista: BMC Res Notes Ano de publicação: 2016 Tipo de documento: Article