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Dominant mutations in mtDNA maintenance gene SSBP1 cause optic atrophy and foveopathy.
J Clin Invest. 2020 Jan 2;130(1):143-156. doi: 10.1172/JCI128513.
J Clin Invest. 2020.
PMID: 31550237
Free PMC article.
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Peron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan J, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page M, Stong N, Boesch S, Kopajtich R, Wortmann S, Sperl W, Davis EE, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V.
Del Dotto V, et al.
J Clin Invest. 2020 Jan 2;130(1):108-125. doi: 10.1172/JCI128514.
J Clin Invest. 2020.
PMID: 31550240
Free PMC article.
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