Títol: | Hypomorphic Mutations in the Central Fanconi Anemia Gene FANCD2 Sustain a Significant Group of FA-D2 Patients with Severe Phenotype. Running title : FA-D2 phenotype and FANCD2 mutations |
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Autor/a: | Kalba, Reinhard; Neveling, Kornelia; Hoehn, Holger; Schneider, Hildegard; Linka, Yvonne; Batishb, Sat Dev; Hunt, Curtis; Berwick, Marianne; Callén Moréu, Elsa; Surrallés i Calonge, Jordi; Casado, José A.; Bueren, Juan; Dasí, Ángeles; Soulier, Jean; Gluckman, Eliane; Zwaan, C. Michel; Van Spaendonk, Rosalina; Pals, Gerard; Winter, Johan P. de; Joenje, Hans; Grompe, Markus; Auerbach, Arleen D.; Hanenberg, Helmut; Schindler, Detlev |
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Abstract: | |
Matèries: | -PREI 2008 -Fanconi anemia -FANCD2 -Hypomorphic mutations -Splicing -Residual protein |
Drets: | open access
Tots els drets reservats. https://rightsstatements.org/vocab/InC/1.0/ |
Tipus de document: | Article |
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Uri: | https://ddd.uab.cat/record/67767 |