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Missense mutation in a patient with X-linked dyskeratosis congenita
Doris M Kraemer1, Matthias Goebeler
1Medizinische Poliklinik, Klinikstr. 8, 97070 Würzburg, Germany. kraemer_d@klinik.uni-wuerzburg.de
Haematologica
|April 12, 2003
Abstract:
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.