Article
Identification and functional characterization of novel telomerase variant alleles in Japanese patients with bone-marrow failure syndromes.
Blood cells, molecules & diseases - 1 Jan 2000
Junko Takeuchi, Ly Hinh, Yamaguchi Hiroki, Carroll Kathryn A, Fumiko Kosaka, Kazuhiro Sawaguchi, Yoshio Mitamura, Ayako Watanabe, Seiji Gomi, Koiti Inokuchi, Dan Kazuo
Abstract excerpt
As the incidence of bone-marrow failure syndromes (BMFS) is 2-3x higher in East Asia than in the West, we examined peripheral blood or marrow cells of 100 Japanese patients for possible pathogenic mutations in the two main components of the telomere-synthesizing enzyme telomerase (hTERC RNA and hTERT protein) that have recently been implicated in the disease pathogenesis. We analyzed samples collected from 34...
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