Article
Somatic mosaicism in Fanconi anemia: evidence of genotypic reversion in lymphohematopoietic stem cells.
Proceedings of the National Academy of Sciences of the United States of America - 27 Feb 2001
Gregory J J, Wagner J E, Verlander P C, Levran O, Batish S D, Eide C R, Steffenhagen A, Hirsch B, Auerbach A D
Abstract excerpt
Somatic mosaicism has been observed previously in the lymphocyte population of patients with Fanconi anemia (FA). To identify the cellular origin of the genotypic reversion, we examined each lymphohematopoietic and stromal cell lineage in an FA patient with a 2815-2816ins19 mutation in FANCA and known lymphocyte somatic mosaicism. DNA extracted from individually plucked peripheral blood T cell colonies and marrow...
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