Correct mRNA Processing at a Mutant TT Splice Donor in FANCC Ameliorates the Clinical Phenotype in Patients and Is Enhanced by Delivery of Suppressor U1 snRNAs

gan Hartmann, Linda, Neveling, Kornelia, Borkens, Stephanie, Schneider, Hildegard, Freund, Marcel, Grassman, Elke, Theiss, Stephan, Wawer, Angela, Burdach, Stefan, Auerbach, Arleen D., Schindler, Detlev, Hanenberg, Helmut, Schaal, Heiner
Cyhoeddwyd 2010

Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant Group of FA-D2 Patients with Severe Phenotype

gan Kalb, Reinhard, Neveling, Kornelia, Hoehn, Holger, Schneider, Hildegard, Linka, Yvonne, Batish, Sat Dev, Hunt, Curtis, Berwick, Marianne, Callén, Elsa, Surrallés, Jordi, Casado, José A., Bueren, Juan, Dasí, Ángeles, 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
Cyhoeddwyd 2007