Published in Acta Haematol on January 01, 1992
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The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome. Mol Genet Metab (2009) 0.89
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Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy. J Pediatr (1994) 0.88
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A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome. Biochim Biophys Acta (2012) 0.86
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