Dyskeratosis congenita: telomerase, telomeres and anticipation.

@article{Marrone2005DyskeratosisCT,
  title={Dyskeratosis congenita: telomerase, telomeres and anticipation.},
  author={Anna Marrone and Amanda J. Walne and Inderjeet S Dokal},
  journal={Current opinion in genetics & development},
  year={2005},
  volume={15 3},
  pages={249-57}
}
Dyskeratosis congenita (DC) is a rare bone marrow failure syndrome that displays marked clinical and genetic heterogeneity. The identification of dyskeratosis congenita gene 1 (DKC1) mutations in X-linked recessive patients initially suggested that DC is a defective pseudouridylation disorder. The subsequent identification of mutations in the telomerase RNA component (TERC) of autosomal dominant DC patients together with the discovery that both TERC and the DKC1-encoded protein, dyskerin, are… CONTINUE READING
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