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IFT80 mutations cause a novel complex ciliopathy phenotype with retinal degeneration.
Moran, J; G Sanderson, K; Maynes, J; Vig, A; Batmanabane, V; Kannu, P; Tavares, E; Vincent, A; Héon, E.
Afiliação
  • Moran J; Program of Genetics and Genomic Biology, SickKids Research Institute, Toronto, Ontario, Canada.
  • G Sanderson K; Program of Genetics and Genomic Biology, SickKids Research Institute, Toronto, Ontario, Canada.
  • Maynes J; Department of Anesthesia and Pain Medicine, Hospital for Sick Children, Toronto, Ontario, Canada.
  • Vig A; Department of Biochemistry, University of Toronto, Toronto, Ontario, Canada.
  • Batmanabane V; Program of Genetics and Genomic Biology, SickKids Research Institute, Toronto, Ontario, Canada.
  • Kannu P; Department of Ophthalmology and Vision Sciences, SickKids and University of Toronto, Toronto, Ontario, Canada.
  • Tavares E; Program of Genetics and Genomic Biology, SickKids Research Institute, Toronto, Ontario, Canada.
  • Vincent A; Department of Ophthalmology and Vision Sciences, SickKids and University of Toronto, Toronto, Ontario, Canada.
  • Héon E; Program of Genetics and Genomic Biology, SickKids Research Institute, Toronto, Ontario, Canada.
Clin Genet ; 94(3-4): 368-372, 2018 10.
Article em En | MEDLINE | ID: mdl-29923190
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Degeneração Retiniana / Proteínas de Transporte / Ciliopatias / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Fenótipo / Degeneração Retiniana / Proteínas de Transporte / Ciliopatias / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article