Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3199131 | Journal of Allergy and Clinical Immunology | 2012 | 13 Pages |
Abstract
These observations provide the notions that (1)Â various telomere defects can lead to similar clinical features, (2) telomere dysfunction in cells from patients with DC/HH is not always associated with short telomeres, and (3) additional factors, likely involved in telomere protection rather than in length regulation, are responsible for a subset of DC/HH.
Keywords
TIN2Telomerase RNA componentCO-FISHTERCImmune deficienciesIRIFTIFPOT1DSBMitomycin CHoyeraal-Hreidarsson syndromeICLTRAPMMCTRFITSInterstrand crosslinkTERTTelomerase reverse transcriptaseTelomereprotection of telomeres 1double-strand breakBone marrow failureTelomeric repeat amplification protocolSenescenceDyskeratosis congenita
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Authors
Fabien MD, PhD, Laetitia Gaillard, Nadia Vasquez, Tangui MSc, Yves MD, PhD, Jean MD, PhD, Thierry MD, PhD, Alain MD, PhD, Jean MD, PhD, Jean-Pierre PhD, Patrick PhD,