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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. We report on four infants from two unrelated families of Jewish Caucasus origin with fatal neonatal lactic acidemia...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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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 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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