Ontology highlight
ABSTRACT:
SUBMITTER: Kim Y
PROVIDER: S-EPMC3345287 | biostudies-literature | 2011 Feb
REPOSITORIES: biostudies-literature
Kim Yonghwan Y Lach Francis P FP Desetty Rohini R Hanenberg Helmut H Auerbach Arleen D AD Smogorzewska Agata A
Nature genetics 20110116 2
Fanconi anemia is a rare recessive disorder characterized by genome instability, congenital malformations, progressive bone marrow failure and predisposition to hematologic malignancies and solid tumors. At the cellular level, hypersensitivity to DNA interstrand crosslinks is the defining feature in Fanconi anemia. Mutations in thirteen distinct Fanconi anemia genes have been shown to interfere with the DNA-replication-dependent repair of lesions involving crosslinked DNA at stalled replication ...[more]