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Article

Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain.

Journal of inherited metabolic disease - 1 Feb 2001

Wittig I, Augstein P, Brown G K, Fujii T, Rötig A, Rustin P, Munnich A, Seibel P, Thorburn D, Wissinger B, Tamboom K, Metspalu A, Lamantea E, Zeviani M, Wehnert M S

Abstract excerpt

NDUFA1 is one of the 36 nuclear genes encoding subunits of the mitochondrial complex I involved in the respiratory chain. The human NDUFA1 has been cloned, completely sequenced and mapped to Xq24. In the present study, we searched for sequence variations in NDUFA1 as causative defects in complex I deficiency using genomic DNA of 152 patients with various clinical phenotypes. The patient sample consisted of 54...

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Identifiers

PMID: 11286378
DOI: 10.1023/a:1005638218246

Genes

NDUFA1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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