Identification of Alu-mediated deletions in the Fanconi anemia gene FAA.

@article{Levran1998IdentificationOA,
  title={Identification of Alu-mediated deletions in the Fanconi anemia gene FAA.},
  author={Orna Levran and Norman A. Doggett and Arleen D. Auerbach},
  journal={Human mutation},
  year={1998},
  volume={12 3},
  pages={145-52}
}
Fanconi anemia (FA) is an autosomal recessive syndrome associated with hypersensitivity to DNA cross-linking agents and predisposition to neoplasia. Eight complementation groups (A-H) have been described, but the only FA genes cloned so far are FAC and FAA. We have recently identified 40 different germline mutations, including microdeletions, microinsertions, and point mutations in genomic DNA from 97 FA patients from the International Fanconi Anemia Registry (IFAR) by single-strand… CONTINUE READING