X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

@article{Heiss1998XlinkedDC,
  title={X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions},
  author={N. Heiss and S. W. Knight and T. Vulliamy and S. Klauck and S. Wiemann and P. Mason and A. Poustka and I. Dokal},
  journal={Nature Genetics},
  year={1998},
  volume={19},
  pages={32-38}
}
  • N. Heiss, S. W. Knight, +5 authors I. Dokal
  • Published 1998
  • Medicine, Biology
  • Nature Genetics
  • X-linked recessive dyskeratosis congenita (DKC) is a rare bone-marrow failure disorder linked to Xq28. Hybridization screening with 28 candidate cDNAs resulted in the detection of a 3′ deletion in one DKC patient with a cDNA probe (derived from XAP101). Five different missense mutations in five unrelated patients were subsequently identified in XAP101, indicating that it is the gene responsible for X-linked DKC (DKC1). DKC1 is highly conserved across species barriers and is the orthologue of… CONTINUE READING
    X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.
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