Article
Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia.
Proceedings of the National Academy of Sciences of the United States of America - 27 Jan 2009
Calado Rodrigo T, Regal Joshua A, Hills Mark, Yewdell William T, Dalmazzo Leandro F, Zago Marco A, Lansdorp Peter M, Hogge Donna, Chanock Stephen J, Estey Elihu H, Falcão Roberto P, Young Neal S
Abstract excerpt
Loss-of-function mutations in telomerase complex genes can cause bone marrow failure, dyskeratosis congenita, and acquired aplastic anemia, both diseases that predispose to acute myeloid leukemia. Loss of telomerase function produces short telomeres, potentially resulting in chromosome recombination, end-to-end fusion, and recognition as damaged DNA. We investigated whether mutations in telomerase genes also...
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