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Mammalian Genome, Vol. 11, Iss. 9, 2000-09 ,pp. : 808-810

Springer Publishing Company

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A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome

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Oxford University Press

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Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity

By Calvaruso Maria Antonietta   Willems Peter   van den Brand Mariël   Valsecchi Federica   Kruse Shane   Palmiter Richard   Smeitink Jan   Nijtmans Leo  

Human Molecular Genetics, Vol. 21, Iss. 1, 2012-01 ,pp. : 115-120

Oxford University Press

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Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1

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Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 ( Cct4 ) gene

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