Article
Current knowledge on the pathophysiology of Fanconi anemia: from genes to phenotypes.
International journal of hematology - 1 Jul 2001
Yamashita T, Nakahata T
Abstract excerpt
Fanconi anemia (FA) is an autosomal recessive disease characterized by congenital anomalies, bone marrow failure, and leukemia susceptibility. FA cells show chromosome instability and hypersensitivity to DNA cross-linking agents such as mitomycin C. Recent studies indicate that there are at least 8 genetically distinct FA groups (A, B, C, D1, D2, E, F, G). To date, 6 genes (for A, C, D2, E, F, and G) have been...
Topics
- Adolescent
- Animals
- BRCA1 Protein
- Cell Cycle Proteins
- Child
- Child, Preschool
- Chromosome Mapping
- Chromosomes, Human
- Cross-Linking Reagents
- DNA Damage
- DNA Mutational Analysis
- DNA Repair
- DNA-Binding Proteins
- Fanconi Anemia