Article

Chromosome Instability in Fanconi Anemia: From Breaks to Phenotypic Consequences

2020-12-22

Abstract excerpt

Abstract: Fanconi anemia (FA), a chromosomal instability syndrome, is caused by inherited pathogenic variants in any of 22 FANC genes, that cooperate in the FA/BRCA pathway. This pathway regulates the repair of DNA interstrand crosslinks (ICLs) through homologous recombination. In FA proper repair of ICLs is impaired, and accumulation of toxic DNA double strand breaks occurs. In order to repair this type of DNA da...

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Literature Corpus work: 20fc588d-a3cd-5be5-9215-33c16dc1b2fe
DOI: 10.20944/preprints202011.0563.v2

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