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- W2363430357 abstract "Objective: Bullous congenital ichthyosiform erythroderma (BCIE) is due to the mutation on keratin-1/10 (K1/10) gene. Our previous study reported a case of BCIE with the mutation on K1E477K [AAG (E) - AAG (K)]. The study was designed to make the same E477K mutation in order to get insight into the effect of the mutation on K1 gene. Methods: a full-length K1 cDNA open reading frame was cloned. Taking the pK1cDNA as a model, a site-directed mutagenesis of K1E477K was performed by overlap extension using PCR. Results: Sequencing proved that the sequence of cloned full-length K1cDNA was 2022 bp, which was accordant with the sequence in Genebank. The site-directed mutagenesis was accurate, without any other substitution. Conclusion: Through this study, a normal K1 cDNA gene (pK1cDNA) and mutated one (pMK1cDNA) were cloned successfully. It is a good beginning for further study on the K1 gene." @default.
- W2363430357 created "2016-06-24" @default.
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- W2363430357 date "2004-01-01" @default.
- W2363430357 modified "2023-09-27" @default.
- W2363430357 title "Clone and site-directed mutagenesis of human keratin-1 cDNA gene" @default.
- W2363430357 hasPublicationYear "2004" @default.
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