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Functional characterization of natural telomerase mutations found in patients with hematologic disorders.

Blood - 15 Jan 2007

Xin Zhong-Tao, Beauchamp Adam D, Calado Rodrigo T, Bradford Jennifer W, Regal Joshua A, Shenoy Aarthi, Liang Yuying, Lansdorp Peter M, Young Neal S, Ly Hinh

Abstract excerpt

Human telomerase hTERC RNA serves as a template for the catalytic hTERT protein to synthesize telomere repeats at chromosome ends. We have recently shown that some patients with bone marrow failure syndromes are heterozygous carriers for hTERC or hTERT mutations. These sequence variations usually lead to a compromised telomerase function by haploinsufficiency. Here, we provide functional characterization of an...

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Identifiers

PMID: 16990594
DOI: 10.1182/blood-2006-07-035089

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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