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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.
scientific article published on 2 November 2012
Author/s
author: Richard J Rodenburg, Christian Gilissen, Joris A Veltman, Peter H Willems, Martijn A Huynen, Leo G J Nijtmans, Radek Szklarczyk
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Publication date
November 2, 2012
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Language
English
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