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A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome

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author: Agnès Rötig  Julie Steffann  Valérie Serre  Arnold Munnich  Noman Kadhom  Dominique Chrétien  Sophie Lebon  Jean-Paul Bonnefont 

Publication date June 28, 2007
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