A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome (Q24290836)

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A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome
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    A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome (English)
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    V Petruzzella
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    R Vergari
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    I Puzziferri
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    D Boffoli
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    E Lamantea
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    M Zeviani
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    S Papa
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    1 March 2001
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    10
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    5
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    529-35
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