Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice

By Tiranti V.  

Human Molecular Genetics, Vol. 12, Iss. 4, 2003-02 ,pp. : 399-413

Oxford University Press

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A mutation in the human heme A:farnesyltransferase gene ( COX10 ) causes cytochrome c oxidase deficiency

By Valnot Isabelle   von Kleist-Retzow Jürgen-Christoph   Barrientos Antoni  

Human Molecular Genetics, Vol. 9, Iss. 8, 2000-05 ,pp. : 1245-1249

Oxford University Press

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A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia

By Szklarczyk Radek   Wanschers Bas F. J.   Nijtmans Leo G.   Rodenburg Richard J.   Zschocke Johannes   Dikow Nicola   van den Brand Mariël A. M.   Hendriks-Franssen Marthe G. M.   Gilissen Christian   Veltman Joris A.   Nooteboom Marco   Koopman Werner J. H.   Willems Peter H.G.M.   Smeitink Jan A. M.   Huynen Martijn A.   van den Heuvel Lambertus P.  

Human Molecular Genetics, Vol. 22, Iss. 4, 2013-02 ,pp. : 656-667

Oxford University Press

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Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

By Antonicka Hana  

Human Molecular Genetics, Vol. 12, Iss. 20, 2003-10 ,pp. : 2693-2702

Oxford University Press

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Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

By Jaksch Michaela  

Human Molecular Genetics, Vol. 9, Iss. 5, 2000-03 ,pp. : 795-801

Oxford University Press

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