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A novel mutation in the CTSC gene in Iranian family with Papillon-Lefevre Syndrome
[dataset]
Authorea
unpublished
PLS is a rare autosomal recessive disorder characterized by the palmar-plantar hyperkeratosis and severe degeneration of the periodontium. The defects in cathepsin C gene, are responsible for PLS. In this study, we analyzed the whole exomes of CTSC gene in a family with history of PLS. Methods: Genomic DNA was extracted from peripheral blood and genotype analysis was performed. The mutated protein sequence was used to find the best possible tertiary structure for homology modeling. The homology
doi:10.22541/au.158325449.91687280
fatcat:bzc43nkcavdhhdj7yfb73s6zxa