Journal
NATURE GENETICS
Volume 36, Issue 5, Pages 447-449Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng1346
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Telomerase is a ribonucleoprotein complex that is required to synthesize DNA repeats at the ends of each chromosome. The RNA component of this reverse transcriptase is mutated in the bone marrow failure syndrome autosomal dominant dyskeratosis congenita. Here we show that disease anticipation is observed in families with this disease and that this is associated with progressive telomere shortening.
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