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Demonstration of the pathogenicity of a common non-exomic mutation in ABCA4 using iPSC-derived retinal organoids and retrospective clinical data.
Burnight, Erin R; Fenner, Beau J; Han, Ian C; DeLuca, Adam P; Whitmore, S Scott; Bohrer, Laura R; Andorf, Jeaneen L; Sohn, Elliott H; Mullins, Robert F; Tucker, Budd A; Stone, Edwin M.
Afiliación
  • Burnight ER; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, IA, United States.
  • Fenner BJ; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, United States.
  • Han IC; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, IA, United States.
  • DeLuca AP; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, United States.
  • Whitmore SS; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, IA, United States.
  • Bohrer LR; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, United States.
  • Andorf JL; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, IA, United States.
  • Sohn EH; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, United States.
  • Mullins RF; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, IA, United States.
  • Tucker BA; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City, IA, United States.
  • Stone EM; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City, IA, United States.
Hum Mol Genet ; 2023 Oct 31.
Article en En | MEDLINE | ID: mdl-37930186

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Hum Mol Genet Asunto de la revista: BIOLOGIA MOLECULAR / GENETICA MEDICA Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos