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A novel GSN variant outside the G2 calcium-binding domain associated with Amyloidosis of the Finnish type.
Mullany, Sean; Souzeau, Emmanuelle; Klebe, Sonja; Zhou, Tiger; Knight, Lachlan S W; Qassim, Ayub; Berry, Ella C; Marshall, Henry; Hussey, Matthew; Dubowsky, Andrew; Breen, James; Hassall, Mark M; Mills, Richard A; Craig, Jamie E; Siggs, Owen M.
Afiliação
  • Mullany S; Flinders Department of Ophthalmology, College of Medicine and Public Health, Flinders University, Bedford Park, South Australia, Australia.
  • Souzeau E; Flinders Department of Ophthalmology, College of Medicine and Public Health, Flinders University, Bedford Park, South Australia, Australia.
  • Klebe S; Department of Pathology, College of Medicine and Public Health, Flinders University, Bedford Park, South Australia, Australia.
  • Zhou T; Department of Anatomical Pathology, SA Pathology, Flinders Medical Centre, Bedford Park, South Australia, Australia.
  • Knight LSW; Flinders Department of Ophthalmology, College of Medicine and Public Health, Flinders University, Bedford Park, South Australia, Australia.
  • Qassim A; Flinders Department of Ophthalmology, College of Medicine and Public Health, Flinders University, Bedford Park, South Australia, Australia.
  • Berry EC; Flinders Department of Ophthalmology, College of Medicine and Public Health, Flinders University, Bedford Park, South Australia, Australia.
  • Marshall H; Flinders Department of Ophthalmology, College of Medicine and Public Health, Flinders University, Bedford Park, South Australia, Australia.
  • Hussey M; Flinders Department of Ophthalmology, College of Medicine and Public Health, Flinders University, Bedford Park, South Australia, Australia.
  • Dubowsky A; Department of Anatomical Pathology, SA Pathology, Flinders Medical Centre, Bedford Park, South Australia, Australia.
  • Breen J; Department of Anatomical Pathology, SA Pathology, Flinders Medical Centre, Bedford Park, South Australia, Australia.
  • Hassall MM; SAHMRI Bioinformatics Core, South Australian Health and Medical Research Institute, Adelaide, South Australia, Australia.
  • Mills RA; Flinders Department of Ophthalmology, College of Medicine and Public Health, Flinders University, Bedford Park, South Australia, Australia.
  • Craig JE; Flinders Department of Ophthalmology, College of Medicine and Public Health, Flinders University, Bedford Park, South Australia, Australia.
  • Siggs OM; Flinders Department of Ophthalmology, College of Medicine and Public Health, Flinders University, Bedford Park, South Australia, Australia.
Hum Mutat ; 42(7): 818-826, 2021 07.
Article em En | MEDLINE | ID: mdl-33973672
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofias Hereditárias da Córnea / Amiloidose Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans País/Região como assunto: Europa Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Distrofias Hereditárias da Córnea / Amiloidose Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans País/Região como assunto: Europa Idioma: En Ano de publicação: 2021 Tipo de documento: Article