SSBP1 mutations cause a complex optic atrophy spectrum disorder with mitochondrial DNA depletion

Conference Paper

Full Text

Duke Authors

Cited Authors

  • Pippucci, T; Del Dotto, V; Di Meo, I; Magini, P; Gusic, M; Maresca, A; Caporali, L; Palombo, F; Tagliavini, F; Baugh, EH; La Morgia, C; Barboni, P; Carbonelli, M; Valentino, ML; Liguori, R; Shashi, V; Sullivan, J; Nagaraj, S; Bertini, E; Carrozzo, R; Emma, F; Cutcutache, I; Armstrong, M; Page, M; Stong, N; Davies, E; Karall, D; Boesch, S; Seri, M; Falkenberg, M; Prokisch, H; Katsanis, N; Tiranti, V; Carelli, V

Published Date

  • October 1, 2019

Published In

Volume / Issue

  • 27 /

Start / End Page

  • 1162 - 1163

Published By


  • 2

Electronic International Standard Serial Number (EISSN)

  • 1476-5438

International Standard Serial Number (ISSN)

  • 1018-4813

Conference Name

  • 52nd Conference of the European-Society-of-Human-Genetics (ESHG)

Conference Location

  • Gothenburg, SWEDEN

Conference Start Date

  • June 15, 2019

Conference End Date

  • June 18, 2019