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J Coll Physicians Surg Pak · Jun 2011
Detection of filaggrin gene mutation (2282del4) in Pakistani Ichthyosis vulgaris families.
- Naghma Naz and Azam Jah Samdani.
- Karachi Institute of Biotechnology and Genetic Engineering, University of Karachi, Karachi. naghmanaz@yahoo.com
- J Coll Physicians Surg Pak. 2011 Jun 1; 21 (6): 382-3.
AbstractThe aim of this study was to detect an 811 bp filaggrin (FLG) gene fragment known to carry a mutation 2282del4 which causes ichthyosis vulgaris. Seven clinically examined ichthyosis vulgaris families were included in this study. An 811 bp FLG gene fragment was targeted in the genomic DNA of all the members of the seven families by PCR amplification using known primers RPT1P7 and RPT2P1. Successful amplification of an 811 bp FLG gene fragment in all the families suggested the possible role of the 2282del4 mutation in causing ichthyosis vulgaris in Pakistani population.
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