A nonsense mutation and exon skipping in the Fanconi anaemia group C gene.

@article{Gibson1993ANM,
  title={A nonsense mutation and exon skipping in the Fanconi anaemia group C gene.},
  author={Rachel A. Gibson and Atieh Hajianpour and Manuela Murer-Orlando and Manuel Buchwald and Christopher G Mathew},
  journal={Human molecular genetics},
  year={1993},
  volume={2 6},
  pages={797-9}
}
Fanconi anaemia (FA) is an autosomal recessive disorder associated with bone-marrow failure and hypersensitivity to DNA cross-linking agents. At least four complementation groups have been defined, and a cDNA which corrects the defect in group C cells (FACC) has recently been isolated. We have screened the FACC coding sequence for mutations in FA patients and found one patient to be homozygous for a nonsense mutation in exon 6 of the FACC coding sequence (R185X). Exon 6 was spliced out of a… CONTINUE READING