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Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.
Siggs, Owen M; Javadiyan, Shari; Sharma, Shiwani; Souzeau, Emmanuelle; Lower, Karen M; Taranath, Deepa A; Black, Jo; Pater, John; Willoughby, John G; Burdon, Kathryn P; Craig, Jamie E.
Afiliação
  • Siggs OM; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, South Australia, Australia.
  • Javadiyan S; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, South Australia, Australia.
  • Sharma S; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, South Australia, Australia.
  • Souzeau E; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, South Australia, Australia.
  • Lower KM; Department of Haematology and Genetic Pathology, Flinders University, Bedford Park, South Australia, Australia.
  • Taranath DA; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, South Australia, Australia.
  • Black J; Department of Ophthalmology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
  • Pater J; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, South Australia, Australia.
  • Willoughby JG; Department of Ophthalmology, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
  • Burdon KP; Department of Ophthalmology, Flinders University, Flinders Medical Centre, Bedford Park, South Australia, Australia.
  • Craig JE; Menzies Institute for Medical Research, University of Tasmania, Hobart, Tasmania, Australia.
Eur J Hum Genet ; 25(6): 711-718, 2017 06.
Article em En | MEDLINE | ID: mdl-28272538
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Oftalmopatias Hereditárias / Duplicação Gênica / Cadeia A de beta-Cristalina / Cadeia B de beta-Cristalina Tipo de estudo: Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Oftalmopatias Hereditárias / Duplicação Gênica / Cadeia A de beta-Cristalina / Cadeia B de beta-Cristalina Tipo de estudo: Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article