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Comprehensive laboratory diagnosis of Fanconi anaemia: comparison of cellular and molecular analysis

Journal of medical genetics, Vol. 60, Issue 8, Pages 801-809, 2023

PMID: 36894310

Fanconi anaemia (FA) is a rare inherited bone marrow failure disease caused by germline pathogenic variants in any of the 22 genes involved in the FA-DNA interstrand crosslink (ICL) repair pathway. Accurate laboratory investigations are required for FA diagnosis for the clinical management of the patients. We performed chromosome breakage analysis (CBA), FANCD2 ubiquitination (FANCD2-Ub) analysis and exome sequencing of 142 Indian patients with FA and evaluated the efficiencies of these methods in FA diagnosis.

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