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Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.
Zampaglione, Erin; Kinde, Benyam; Place, Emily M; Navarro-Gomez, Daniel; Maher, Matthew; Jamshidi, Farzad; Nassiri, Sherwin; Mazzone, J Alex; Finn, Caitlin; Schlegel, Dana; Comander, Jason; Pierce, Eric A; Bujakowska, Kinga M.
Afiliação
  • Zampaglione E; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
  • Kinde B; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
  • Place EM; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
  • Navarro-Gomez D; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
  • Maher M; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
  • Jamshidi F; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
  • Nassiri S; Rosalind Franklin University of Medicine & Science, RFUMS/Chicago Medical School, North Chicago, IL, USA.
  • Mazzone JA; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
  • Finn C; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
  • Schlegel D; Department of Ophthalmology and Visual Sciences, W. K. Kellogg Eye Center, University of Michigan, Ann Arbor, MI, USA.
  • Comander J; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
  • Pierce EA; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
  • Bujakowska KM; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA. kinga_bujakowska@meei.harvard.edu.
Genet Med ; 22(6): 1079-1087, 2020 06.
Article em En | MEDLINE | ID: mdl-32037395
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Degeneração Retiniana Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Degeneração Retiniana Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2020 Tipo de documento: Article