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12 p, 548.1 KB Mosaicism in Fanconi anemia : concise review and evaluation of published cases with focus on clinical course of blood count normalization / Nicoletti, Eileen (Rocket Pharmaceuticals, Inc., New York) ; Rao, Gayatri (Rocket Pharmaceuticals, Inc., New York, NY USA) ; Bueren, Juan (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Río, Paula (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Navarro Ordóñez, Susana (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ; Surrallés i Calonge, Jordi (Institut d'Investigació Biomèdica Sant Pau) ; Choi, Grace (Rocket Pharmaceuticals, Inc., New York) ; Schwartz, Jonathan D. (Rocket Pharmaceuticals, Inc., New York) ; Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia
Fanconi anemia (FA) is a DNA repair disorder resulting from mutations in genes encoding for FA DNA repair complex components and is characterized by variable congenital abnormalities, bone marrow failure (BMF), and high incidences of malignancies. [...]
2020 - 10.1007/s00277-020-03954-2
Annals of Hematology, Vol. 99 (february 2020) , p. 913-924  
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1 Rao, Gouying
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