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Article

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

BMC medical genetics - 19 Jun 2014

Ueda Yasutaka, Calado Rodrigo T, Norberg Anna, Kajigaya Sachiko, Roos Göran, Hellstrom-Lindberg Eva, Young Neal S

Abstract excerpt

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 telomerase RNA component (TERC) is an essential element of telomerase, serving as a template for telomere...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24948335
DOI: 10.1186/1471-2350-15-68
PMCID: PMC4073180

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