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Phenotype-genotype correlations in a pseudodominant Stargardt disease pedigree due to a novel ABCA4 deletion-insertion variant causing a splicing defect.
Huang, Di; Thompson, Jennifer A; Charng, Jason; Chelva, Enid; McLenachan, Samuel; Chen, Shang-Chih; Zhang, Dan; McLaren, Terri L; Lamey, Tina M; Constable, Ian J; De Roach, John N; Aung-Htut, May Thandar; Adams, Abbie; Fletcher, Sue; Wilton, Steve D; Chen, Fred K.
Afiliação
  • Huang D; Centre for Molecular Medicine and Innovative Therapeutics, Murdoch University, Murdoch, Western Australia, Australia.
  • Thompson JA; Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, Western Australia, Australia.
  • Charng J; Centre for Neuromuscular and Neurological Disorders, The University of Western Australia and Perron Institute for Neurological and Translational Science, Nedlands, Western Australia, Australia.
  • Chelva E; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.
  • McLenachan S; Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, Western Australia, Australia.
  • Chen SC; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.
  • Zhang D; Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, Western Australia, Australia.
  • McLaren TL; Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, Western Australia, Australia.
  • Lamey TM; Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, Western Australia, Australia.
  • Constable IJ; Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, Western Australia, Australia.
  • De Roach JN; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.
  • Aung-Htut MT; Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, Western Australia, Australia.
  • Adams A; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.
  • Fletcher S; Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, Western Australia, Australia.
  • Wilton SD; Department of Ophthalmology, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia.
  • Chen FK; Centre for Ophthalmology and Visual Science (Incorporating Lions Eye Institute), The University of Western Australia, Nedlands, Western Australia, Australia.
Mol Genet Genomic Med ; 8(7): e1259, 2020 07.
Article em En | MEDLINE | ID: mdl-32627976
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Transportadores de Cassetes de Ligação de ATP / Mutação INDEL / Doença de Stargardt Tipo de estudo: Prognostic_studies Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Transportadores de Cassetes de Ligação de ATP / Mutação INDEL / Doença de Stargardt Tipo de estudo: Prognostic_studies Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2020 Tipo de documento: Article