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

doi:10.1086/517616

Article

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

American journal of human genetics - 1 May 2007

Kalb Reinhard, Neveling Kornelia, Hoehn Holger, Schneider Hildegard, Linka Yvonne, Batish Sat Dev, Hunt Curtis, Berwick Marianne, Callen Elsa, Surralles Jordi, Casado Jose A, Bueren Juan, Dasi Angeles, Soulier Jean, Gluckman Eliane, Zwaan C Michel, van Spaendonk Rosalina, Pals Gerard, de Winter Johan P, Joenje Hans, Grompe Markus, Auerbach Arleen D, Hanenberg Helmut, Schindler Detlev

Abstract excerpt

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 p...

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

Abstract excerpt

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