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Results: 1-2 |
Results: 2
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
Authors: Hartmann, Linda Neveling, Kornelia Borkens, Stephanie Schneider, Hildegard Schaal, Heiner
Citation: Hartmann, Linda et al., 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, American journal of human genetics (Online) AJHG , 87(4), 2010, pp. 480-493
Hypomorphic Mutations in the Gene Encoding a Key Fanconi Anemia Protein, FANCD2, Sustain a Significant Group of FA-D2 Patients with Severe Phenotype
Authors: 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 Schindler, Detlev
Citation: Kalb, Reinhard et al., 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 , 80(5), 2007, pp. 895-910
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