SnapShot: Fanconi anemia and associated proteins.
review · Level V
Where this comes from
- Record sourced from PubMed, PMID 25594185.
- Also identified by DOI 10.1016/j.cell.2014.12.031.
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Abstract
Fanconi anemia is a genetic disorder resulting from biallelic mutations in one of the 17 FANC genes. It is characterized by congenital abnormalities, bone marrow failure, and cancer predisposition. The underlying cause is genomic instability resulting from the deficiency in replication-dependent DNA interstrand crosslink repair pathway commonly referred to as the Fanconi anemia-BRCA pathway. This SnapShot presents the key factors involved.
Medical subject headings
- DNA Repair
- Fanconi Anemia
- Fanconi Anemia Complementation Group Proteins