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Keywords: Cathepsin C
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Journal Articles

Cathepsin C Gene 5′-Untranslated Region Mutation in Papillon-Lefèvre Syndrome

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Subject Area:
Dermatology , Immunology and Allergy
Rok Kosem, Maruša Debeljak, Barbka Repič Lampret, Aleksej Kansky, Tadej Battelino, Katarina Trebušak Podkrajšek
Journal: Dermatology
Dermatology (2013) 225 (3): 193–203.
https://doi.org/10.1159/000342509
Published Online: 27 October 2012
... periodontitis and associated with mutations in cathepsin C gene (CTSC) . Objective: To investigate the clinical and mutational characteristics of 6 PLS patients from 4 unrelated Slovenian families. Methods: CTSC mutational and functional analyses were performed. Results: In all patients, a novel homozygous...
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Journal Articles

Evidence for a Founder Mutation in the Cathepsin C Gene in Three Families with Papillon-Lefèvre Syndrome

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Subject Area:
Dermatology , Immunology and Allergy
Mazen Kurban, Muhammad Wajid, Yutaka Shimomura, Ruba Bahhady, Abdul-Ghani Kibbi, Angela M. Christiano
Journal: Dermatology
Dermatology (2009) 219 (4): 289–294.
https://doi.org/10.1159/000245341
Published Online: 06 October 2009
... which is followed later on by periodontitis, destruction of alveolar bone and loss of primary and permanent teeth. The condition is caused by mutations in the cathepsin C (CTSC) gene. Methods: We analyzed the DNA of members from 3 consanguineous families for mutations in the CTSC gene by direct...
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Journal Articles

Papillon-Lefèvre Syndrome and Malignant Melanoma

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Subject Area:
Dermatology , Immunology and Allergy
Graham P. Cook
Journal: Dermatology
Dermatology (2009) 219 (2): 187–188.
https://doi.org/10.1159/000224432
Published Online: 09 June 2009
... to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements. Cathepsin C Malignant melanoma Papillon-Lefèvre syndrome Correspondence and Opinions Published online: June 9, 2009 Dermatology 2009;219:187 188 DOI: 10.1159/000224432...
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