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A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon-Lefevre syndrome.

Clinical and experimental dental research - 1 Aug 2021

Ghanei Mahmoud, Abbaszadegan Mohammad R, Forghanifard Mohammad M, Aarabi Azadeh, Arab Hamidreza

Abstract excerpt

OBJECTIVES: In this study, we analyzed the whole exomes of CTSC gene in a family with history of PLS. MATERIALS AND 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 modeling of the novel mutation was then performed using the online Swiss-Prot server....

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PMID: 33586345
DOI: 10.1002/cre2.387
PMCID: PMC8404484

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