Article
Functional characterization of telomerase RNA variants found in patients with hematologic disorders.
Blood - 15 Mar 2005
Ly Hinh, Calado Rodrigo T, Allard Paulette, Baerlocher Gabriela M, Lansdorp Peter M, Young Neal S, Parslow Tristram G
Abstract excerpt
Human telomerase uses a specific cellular RNA, called hTERC, as the template to synthesize telomere repeats at chromosome ends. Approximately 10% to 15% of patients with aplastic anemia or other bone marrow failure syndromes are carriers of hTERC sequence variants whose functional significance, in most cases, is unknown. We screened 10 reported and 2 newly discovered hTERC variants from such patients and found...
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