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- W3147363768 abstract "Objective To identify the mutation of DKC1 gene and its inheritance in a pedigree with dyskeratosis congenita (DKC). Methods The mutation was detected by polymerase chain reaction(PCR)and DNA sequencing, and restriction endonuclease digestion was performed to confirm the mutation. Results A transition mutation of C to T (1058C-T) in DKC1 gene was found in the proband and his brother. This mutation results in an amino acid change from alanine to valine (A353V) in dyskerin protein. The proband′s mother and sister were carriers of this mutation gene with no phenotype of DKC. Conclusion This pedigree is an X-linked form of DKC with 1058C-T mutation in DKC1 gene." @default.
- W3147363768 created "2021-04-13" @default.
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- W3147363768 date "2004-01-01" @default.
- W3147363768 modified "2023-09-26" @default.
- W3147363768 title "Mutation of DKC1 Gene in a Family of Dyskeratosis Congenita" @default.
- W3147363768 hasPublicationYear "2004" @default.
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