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Identification and Functional Characterization of Novel Telomerase Variant Alleles in Japanese Patients with Bone-Marrow Failure Syndromes

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 hTER...

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Publicat a:Blood Cells Mol Dis
Autors principals: Junko, Takeuchi, Ly, Hinh, Yamaguchi, Hiroki, Carroll, Kathryn A., Fumiko, Kosaka, Kazuhiro, Sawaguchi, Yoshio, Mitamura, Ayako, Watanabe, Seiji, Gomi, Koiti, Inokuchi, Dan, Kazuo
Format: Artigo
Idioma:Inglês
Publicat: 2007
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4386610/
https://ncbi.nlm.nih.gov/pubmed/17936651
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bcmd.2007.08.002
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