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aplastic anemia (AA)

A form of anemia in which the bone marrow fails to produce adequate numbers of peripheral blood elements. It is characterized by peripheral pancytopenia and marrow hypoplasia.
Defects in NBN might play a role in the pathogenesis of childhood acute lymphoblastic leukemia (ALL).

Related patway(s): telomere maintenance, homologous recombination (HR)

DNAtraffic protein(s) related to disease: NBN (NBS1), TERT (telomerase catalytic subunit), DKC1

OMIM: 609135

Last modification date: July 7, 2011