(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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title

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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1 reference

NADH:ubiquinone oxidoreductase subunit S4

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stated in

GOA release 2020-03-11

response to cAMP

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stated in

GOA release 2020-03-11

author name string

V Petruzzella

series ordinal

1

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R Vergari

series ordinal

2

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I Puzziferri

series ordinal

3

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D Boffoli

series ordinal

4

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E Lamantea

series ordinal

5

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M Zeviani

series ordinal

6

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S Papa

series ordinal

7

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language of work or name

English

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publication date

1 March 2001

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published in

Human Molecular Genetics

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volume

10

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issue

5

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page(s)

529-35

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Identifiers

DOI

10.1093/HMG/10.5.529

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PubMed publication ID

11181577

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ResearchGate publication ID

277488751

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(Q24290836)

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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