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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Missense mutation in a patient with X-linked dyskeratosis congenita.

We report the case of a 40-year-old male patient with dyskeratosis congenita(DKC). Sequencing of the DKC1 gene revealed an inherited missense mutation in base 1050 (GC), changing methionine to isoleucine. This is the third description of a mutation in codon 350 (exon 11), changing a very well conserved amino acid in the pseudouridine synthase (PUA) domain of dyskerin.[1]


  1. Missense mutation in a patient with X-linked dyskeratosis congenita. Kraemer, D.M., Goebeler, M. Haematologica (2003) [Pubmed]
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