The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita

X-linked dyskeratosis congenita (X-DC) is caused by mutations in the housekeeping nucleolar protein dyskerin. Amino acid changes associated with X-DC are remarkably heterogeneous. Peripheral mononuclear blood cells and fibroblasts isolated from X-DC patients harbor lower steady-state telomerase RNA...

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Detaylı Bibliyografya
Asıl Yazarlar: Zeng, Xi-Lei, Thumati, Naresh R., Fleisig, Helen B., Hukezalie, Kyle R., Savage, Sharon A., Giri, Neelam, Alter, Blanche P., Wong, Judy M.Y.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Oxford University Press 2012
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Articles
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3263989/
https://ncbi.nlm.nih.gov/pubmed/22058290
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr504
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