Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients
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DOI: 10.3324/haematol.2018.207241
Abstract: Fanconi anemia is a rare recessive disease characterized by multiple congenital abnormalities, progressive bone marrow failure, and a predisposition to malignancies. It results from mutations in one of the 22 known FANC genes. The number… read more here.
Keywords: pathogenic mutations; 117 japanese; anemia; fanconi anemia ... See more keywords