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

Reinhard Kalb, Kornelia Neveling, Holger Hoehn, Hildegard Schneider, Yvonne Linka, Sat Dev Batish, Curtis Hunt, Marianne Berwick, Elsa Callén, Jordi Surrallés, José A. Casado, Juan Bueren, Ángeles Dasí, Jean Soulier, Eliane Gluckman, C. Michel Zwaan, Rosalina Van Spaendonk, Gerard Pals, Johan P. De Winter, Hans JoenjeMarkus Grompe, Arleen D. Auerbach, Helmut Hanenberg, Detlev Schindler

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