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Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

Mutation analysis of the complete coding regions at the cDNA level of the nuclear ATP11, ATP12, ATPα, ATPß and ATPγ genes and the mitochondrial MTATP6 and MTAT8 genes was undertaken in two unrelated patients. Blue Native polyacrylamide gel electrophoresis followed by catalytic staining had already d...

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Autors principals: De Meirleir, L, Seneca, S, Lissens, W, De Clercq, I, Eyskens, F, Gerlo, E, Smet, J, Van Coster, R
Format: Artigo
Idioma:Inglês
Publicat: BMJ Group 2004
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1735674/
https://ncbi.nlm.nih.gov/pubmed/14757859
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2003.012047
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