Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC
Open Access
- 18 April 2004
- journal article
- research article
- Published by Springer Nature in Nature Genetics
- Vol. 36 (5) , 447-449
- https://doi.org/10.1038/ng1346
Abstract
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.Keywords
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