Analysis of the ABCA4 c.[2588G>C;5603A>T] Allele in the Australian Population.

Thompson, Jennifer A; Chiang, John Pei-Wen; De Roach, John N; McLaren, Terri L; Chen, Fred K; Hoffmann, Ling; Campbell, Isabella; Lamey, Tina M

Thompson, Jennifer A; Chiang, John Pei-Wen; De Roach, John N; McLaren, Terri L; Chen, Fred K; Hoffmann, Ling; Campbell, Isabella; Lamey, Tina M.

Afiliação

Thompson JA; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, WA, Australia. Jennifer.Thompson3@health.wa.gov.au.
Chiang JP; Molecular Vision Laboratory, Hillsboro, OR, USA.
De Roach JN; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, WA, Australia.
McLaren TL; Centre for Ophthalmology and Visual Science, University of Western Australia, Crawley, WA, Australia.
Chen FK; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, WA, Australia.
Hoffmann L; Centre for Ophthalmology and Visual Science, University of Western Australia, Crawley, WA, Australia.
Campbell I; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, WA, Australia.
Lamey TM; Centre for Ophthalmology and Visual Science, University of Western Australia, Crawley, WA, Australia.

Adv Exp Med Biol ; 1185: 269-273, 2019.

Article em En | MEDLINE | ID: mdl-31884623

Assuntos

Transportadores de Cassetes de Ligação de ATP/genética; Doenças Retinianas/genética; Alelos; Austrália; Humanos; Mutação; Linhagem; Retina/patologia

Palavras-chave

ABCA4; Australian Inherited Retinal Disease Registry; Hypomorphic; Inherited retinal disease; Molecular genetics; Next generation sequencing; Sanger sequencing; c.5603A>T

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Doenças Retinianas / Transportadores de Cassetes de Ligação de ATP Limite: Humans País/Região como assunto: Oceania Idioma: En Revista: Adv Exp Med Biol Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Austrália

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