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Bowne, Sara J; Humphries, Marian M; Sullivan, Lori S; Kenna, Paul F; Tam, Lawrence C S; Kiang, Anna S; Campbell, Matthew; Weinstock, George M; Koboldt, Daniel C; Ding, Li; Fulton, Robert S; Sodergren, Erica J; Allman, Denis; Millington-Ward, Sophia; Palfi, Arpad; McKee, Alex; Blanton, Susan H; Slifer, Susan; Konidari, Ioanna; Farrar, G Jane; Daiger, Stephen P; Humphries, Peter

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement

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  • Media type: E-Article
  • Title: A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement
  • Contributor: Bowne, Sara J; Humphries, Marian M; Sullivan, Lori S; Kenna, Paul F; Tam, Lawrence C S; Kiang, Anna S; Campbell, Matthew; Weinstock, George M; Koboldt, Daniel C; Ding, Li; Fulton, Robert S; Sodergren, Erica J; Allman, Denis; Millington-Ward, Sophia; Palfi, Arpad; McKee, Alex; Blanton, Susan H; Slifer, Susan; Konidari, Ioanna; Farrar, G Jane; Daiger, Stephen P; Humphries, Peter
  • imprint: Springer Science and Business Media LLC, 2011
  • Published in: European Journal of Human Genetics
  • Language: English
  • DOI: 10.1038/ejhg.2011.86
  • ISSN: 1018-4813; 1476-5438
  • Keywords: Genetics (clinical) ; Genetics
  • Origination:
  • Footnote:
  • Access State: Open Access