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- W2388647191 abstract "Objective To detect possible filaggrin(FLG) gene mutations in a family with ichthyosis vulgaris(IV).Methods Genomic DNA was extracted from the peripheral blood of a family with IV,and 100 normal non-kinship people as the control group.13 FLG mutation points(3321delA,1249insG,441delA,S3296X,E1795X,R501X,R2447X,2282del4,S2889X,3702delG,7945delA,R4307X,2417X) were detected by PCR and DNA sequencing.Results FLG mutation(3321delA) was detected in two of the 4 members of the family's second generation,not in unaffected members in the family and the control group.Conclusion Our findings suggest that FLG(3321delA) may result in the alteration of the structure and function of the FLG." @default.
- W2388647191 created "2016-06-24" @default.
- W2388647191 creator A5042282054 @default.
- W2388647191 date "2011-01-01" @default.
- W2388647191 modified "2023-09-24" @default.
- W2388647191 title "Identification of filaggrin gene mutations in a family with ichthyosis vulgaris" @default.
- W2388647191 hasPublicationYear "2011" @default.
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