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Article

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews.

European journal of human genetics : EJHG - 1 Sept 2009

Spiegel Ronen, Shaag Avraham, Mandel Hanna, Reich Dan, Penyakov Marina, Hujeirat Yasir, Saada Ann, Elpeleg Orly, Shalev Stavit A

Abstract excerpt

NADH:ubiquinone oxidoreductase (complex I; EC 1.6.5.3), the largest respiratory chain complex is composed of 45 proteins and is located at the mitochondrial inner membrane. Defects in complex I are associated with energy generation disorders, of which the most severe is congenital lactic acidosis...

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Topics

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Share to Acidosis, Lactic
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Infant, Newborn

Share to NADH Dehydrogenase

Source

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Identifiers

PMID: 19259137
DOI: 10.1038/ejhg.2009.24
PMCID: PMC2986593

Genes

NDUFS6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19259137-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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