Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.

@article{Kalb2007HypomorphicMI,
  title={Hypomorphic mutations in the gene encoding a key Fanconi anemia protein, FANCD2, sustain a significant group of FA-D2 patients with severe phenotype.},
  author={Reinhard Kalb and Kornelia Neveling and Holger H{\"o}hn and Hildegard M. Schneider and Yvonne Linka and Sat Dev Batish and Curtis Hunt and Marianne Berwick and Elsa Call{\'e}n and Jordi Surrall{\'e}s and Jose A Casado and Juan Antonio Bueren and Angeles Das{\'i} and J Steve Soulier and Eliane Gluckman and Christian Michel Zwaan and Rosalina M. L. van Spaendonk and Gerard J Pals and Johan P. de Winter and Hans Joenje and Markus Grompe and Arleen D. Auerbach and Helmut Hanenberg and Detlev Schindler},
  journal={American journal of human genetics},
  year={2007},
  volume={80 5},
  pages={895-910}
}
FANCD2 is an evolutionarily conserved Fanconi anemia (FA) gene that plays a key role in DNA double-strand-type damage responses. Using complementation assays and immunoblotting, a consortium of American and European groups assigned 29 patients with FA from 23 families and 4 additional unrelated patients to complementation group FA-D2. This amounts to 3%-6… CONTINUE READING