Article
Somatic mosaicism in Fanconi anemia: molecular basis and clinical significance.
European journal of human genetics : EJHG - 1 Jan 2000
Lo Ten Foe J R, Kwee M L, Rooimans M A, Oostra A B, Veerman A J, van Weel M, Pauli R M, Shahidi N T, Dokal I, Roberts I, Altay C, Gluckman E, Gibson R A, Mathew C G, Arwert F, Joenje H
Abstract excerpt
Approximately 25% of patients with Fanconi anemia (FA) have evidence of spontaneously occurring mosaicism as manifest by the presence of two subpopulations of lymphocytes, one of which is hypersensitive to cross-linking agents (e.g. mitomycin C) while the other behaves normally in response to these agents. The molecular basis of this phenotypic reversion has not yet been determined. We have investigated 8 FA...
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