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• W2058960085 abstract "In this study, through linkage analysis of a four-generation Chinese family with multiple members afflicted with DGI (type II), we identified a novel missense mutation in DSPP. The mutation was located in exon 2 at the second nucleotide position of the last codon and resulted in a substitution of a proline with a leucine residue (c.50C>T, p.P17L, g.50C>T). To assess the potential effects of this novel mutation, we utilized various bioinformatics analysis programs. The results indicate that the mutation likely affects protein cleavage/trafficking. We also analyzed previously reported mutations of DSPP. In summary, our finding supports that the genomic sequence that corresponds to the P17 residue of DSPP is a mutational hotspot and P17 may be critical for the function of DSPP." @default.
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• W2058960085 date "2012-04-01" @default.
• W2058960085 modified "2023-10-16" @default.
• W2058960085 title "Mutation identification of the DSPP in a Chinese family with DGI-II and an up-to-date bioinformatic analysis" @default.
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• W2058960085 doi "https://doi.org/10.1016/j.ygeno.2012.01.006" @default.
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