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A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).
Pappalardo, Juanita; Heath Jeffery, Rachael C; Thompson, Jennifer A; Chelva, Enid; Pham, Quang; Constable, Ian J; McLaren, Terri L; Lamey, Tina M; De Roach, John N; Chen, Fred K.
Afiliação
  • Pappalardo J; Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, 2 Verdun Street, Nedlands, WA, Australia.
  • Heath Jeffery RC; Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, 2 Verdun Street, Nedlands, WA, Australia.
  • Thompson JA; Department of Ophthalmology, Royal Perth Hospital, Perth, WA, Australia.
  • Chelva E; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, WA, Australia.
  • Pham Q; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, WA, Australia.
  • Constable IJ; Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, 2 Verdun Street, Nedlands, WA, Australia.
  • McLaren TL; Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, 2 Verdun Street, Nedlands, WA, Australia.
  • Lamey TM; Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, 2 Verdun Street, Nedlands, WA, Australia.
  • De Roach JN; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, WA, Australia.
  • Chen FK; Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, 2 Verdun Street, Nedlands, WA, Australia.
Doc Ophthalmol ; 143(1): 61-73, 2021 08.
Article em En | MEDLINE | ID: mdl-33512609
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cis-trans-Isomerases / Distrofia Macular Viteliforme / Distrofias Retinianas / Bestrofinas Tipo de estudo: Diagnostic_studies Limite: Aged / Humans / Male / Middle aged Idioma: En Revista: Doc Ophthalmol Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Austrália País de publicação: Holanda
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cis-trans-Isomerases / Distrofia Macular Viteliforme / Distrofias Retinianas / Bestrofinas Tipo de estudo: Diagnostic_studies Limite: Aged / Humans / Male / Middle aged Idioma: En Revista: Doc Ophthalmol Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Austrália País de publicação: Holanda