A mutation in the H/ACA box of telomerase RNA component gene (TERC) in a young patient with myelodysplastic syndrome

BACKGROUND: Telomeres are repeated sequences (the hexanucleotide TTAGGG in vertebrates) located at chromosome ends of eukaryotes, protecting DNA from end joining or degradation. Telomeres become shorter with each cell cycle, but telomerase, a ribonucleoprotein complex, alleviates this attrition. The...

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Detalhes bibliográficos
Main Authors: Ueda, Yasutaka, Calado, Rodrigo T, Norberg, Anna, Kajigaya, Sachiko, Roos, Göran, Hellstrom-Lindberg, Eva, Young, Neal S
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4073180/
https://ncbi.nlm.nih.gov/pubmed/24948335
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-68
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