The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

@article{Vulliamy2001TheRC,
  title={The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita},
  author={T. Vulliamy and A. Marrone and F. Goldman and A. Dearlove and M. Bessler and P. Mason and I. Dokal},
  journal={Nature},
  year={2001},
  volume={413},
  pages={432-435}
}
  • T. Vulliamy, A. Marrone, +4 authors I. Dokal
  • Published 2001
  • Biology, Medicine
  • Nature
  • Dyskeratosis congenita is a progressive bone-marrow failure syndrome that is characterized by abnormal skin pigmentation, leukoplakia and nail dystrophy. X-linked, autosomal recessive and autosomal dominant inheritance have been found in different pedigrees. The X-linked form of the disease is due to mutations in the gene DKC1 in band 2, sub-band 8 of the long arm of the X chromosome (ref. 3). The affected protein, dyskerin, is a nucleolar protein that is found associated with the H/ACA class… CONTINUE READING

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