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Article

Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects.

Molecular genetics and metabolism - 1 Apr 2009

Pagniez-Mammeri Hélène, Lombes Anne, Brivet Michèle, Ogier-de Baulny Hélène, Landrieu Pierre, Legrand Alain, Slama Abdelhamid

Abstract excerpt

Complex I or reduced nicotinamide adenine dinucleotide (NADH): ubiquinone oxydoreductase deficiency is the most common cause of respiratory chain defects. Molecular bases of complex I deficiencies are rarely identified because of the dual genetic origin of this multi-enzymatic complex (nuclear DN...

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Source

Identifiers

PMID: 19167255
DOI: 10.1016/j.ymgme.2008.12.003

Genes

NDUFS1
NDUFS2
NDUFS3
NDUFS4
NDUFS7
NDUFS8
NDUFV1
NDUFV2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19167255-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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