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One mutation, two phenotypes: a single nonsense mutation of the CTSC gene causes two clinically distinct phenotypes.
Sulák, A; Tóth, L; Farkas, K; Tripolszki, K; Fábos, B; Kemény, L; Vályi, P; Nagy, K; Nagy, N; Széll, M.
Affiliation
  • Sulák A; Department of Medical Genetics, University of Szeged, Szeged, Hungary.
  • Tóth L; Department of Medical Genetics, University of Szeged, Szeged, Hungary.
  • Farkas K; MTA SZTE Dermatological Research Group, University of Szeged, Szeged, Hungary.
  • Tripolszki K; Department of Medical Genetics, University of Szeged, Szeged, Hungary.
  • Fábos B; Mór Kaposi Teaching Hospital, Kaposvár, Hungary.
  • Kemény L; MTA SZTE Dermatological Research Group, University of Szeged, Szeged, Hungary.
  • Vályi P; Department of Dermatology and Allergology, University of Szeged, Szeged, Hungary.
  • Nagy K; Department of Parodontology, Faculty of Dentistry, University of Szeged, Szeged, Hungary.
  • Nagy N; Department of Parodontology, Faculty of Dentistry, University of Szeged, Szeged, Hungary.
  • Széll M; Department of Medical Genetics, University of Szeged, Szeged, Hungary.
Clin Exp Dermatol ; 41(2): 190-5, 2016 Mar.
Article in En | MEDLINE | ID: mdl-26205983
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Papillon-Lefevre Disease / Codon, Nonsense / Cathepsin C / Acro-Osteolysis Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Clin Exp Dermatol Year: 2016 Document type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Papillon-Lefevre Disease / Codon, Nonsense / Cathepsin C / Acro-Osteolysis Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Clin Exp Dermatol Year: 2016 Document type: Article