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

doi:10.1023/a:1005638218246

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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...

Topics

Alleles
DNA Mutational Analysis
Electron Transport
Electron Transport Complex I
Female
Gene Frequency
Genetic Variation
Humans
Leigh Disease
Male
Membrane Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

NADH Dehydrogenase

NADH, NADPH Oxidoreductases

Nucleic Acid Heteroduplexes

Optic Atrophies, Hereditary

Polymorphism, Single Nucleotide

Sequence Analysis, DNA

Source

Open in PubMed

Identifiers

PMID: 11286378
DOI: 10.1023/a:1005638218246

Genes

NDUFA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-11286378-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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