Article
Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel.
The Israel Medical Association journal : IMAJ - 1 Feb 2002
Peleg Leah, Pesso Rachel, Goldman Boleslaw, Dotan Keren, Omer Merav, Friedman Eitan, Berkenstadt Michal, Reznik-Wolf Haike, Barkai Gad
Abstract excerpt
BACKGROUND: The Bloom syndrome gene, BLM, was mapped to 15q26.1 and its product was found to encode a RecQ DNA helicase. The Fanconi's anemia complementation group C gene was mapped to chromosome 9q22.3, but its product function is not sufficiently clear. Both are recessive disorders associated with an elevated predisposition to cancer due to genomic instability. A single predominant mutation of each disorder was...
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