MtDNA mutations associated with sideroblastic anaemia cause a defect of mitochondrial cytochrome c oxidase.

doi:10.1046/j.1432-1327.1998.2580132.x

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Article

MtDNA mutations associated with sideroblastic anaemia cause a defect of mitochondrial cytochrome c oxidase.

European journal of biochemistry - 15 Nov 1998

Bröker S, Meunier B, Rich P, Gattermann N, Hofhaus G

Abstract excerpt

We have recently described heteroplasmic mutations of mitochondrial DNA in patients suffering from sideroblastic anaemia. The mutations change conserved residues 1280 and M273 in subunit I of cytochrome oxidase, the terminal enzyme of the mitochondrial respiratory chain. As a step towards elucida...

Topics

Anemia, Sideroblastic
Cell Line
DNA, Mitochondrial
Electron Transport Complex IV
Humans
Kinetics
Mitochondria
Mutation
Recombination, Genetic

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