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Article

The role of oxygen metabolism for the pathological phenotype of Fanconi anemia.

Human genetics - 1 Jun 1997

Ruppitsch W, Meisslitzer C, Weirich-Schwaiger H, Klocker H, Scheidereit C, Schweiger M, Hirsch-Kauffmann M

Abstract excerpt

The molecular defect of the hereditary disease Fanconi anemia (FA) remains unknown. The two theoretical possibilities are (1) an impaired DNA crosslink-repair system or (2) a disturbed oxygen metabolism either by overproduction of reactive oxygen intermediates (ROI) or by diminished detoxification of ROI. In order to gain further insight into the molecular mechanism of this disease, we have determined the repair...

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

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Identifiers

PMID: 9187662
DOI: 10.1007/s004390050437

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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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