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Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.
PLoS One
; 14(9): e0221829, 2019.
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en Inglés
| MEDLINE | ID: mdl-31479473
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