A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia. (Q47074411)
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scientific article published on 2 November 2012
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English | 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 |
Statements
A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia (English)
Leo G Nijtmans
Radek Szklarczyk
Bas F J Wanschers
Johannes Zschocke
Nicola Dikow
Mariël A M van den Brand
Marthe G M Hendriks-Franssen
Marco Nooteboom
Werner J H Koopman
Jan A M Smeitink
Lambertus P van den Heuvel
2 November 2012
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