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A novel mutation in the cathepsin C (CTSC) gene in Iranian family with Papillon‐Lefevre syndrome
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 hom...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8404484/ https://www.ncbi.nlm.nih.gov/pubmed/33586345 http://dx.doi.org/10.1002/cre2.387 |