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Novel Mutations in the Cathepsin C Gene in Patients with Pre-pubertal Aggressive Periodontitis and Papillon-Lefèvre Syndrome

¹ Department of Conservative Dentistry and
² Department of Surgical Research, Universitätsklinikum Carl Gustav Carus, Dresden University of Technology, Fetscherstrasse 74, 01307, Dresden, Germany;
³ Department of Periodontology, Ernst Moritz Arndt University, Greifswald, Germany; and
⁴ Section of Periodontology, Department of Conservative Dentistry, School of Dental Medicine, Ruprecht-Karls-University, Heidelberg, Germany;

View larger version (37K): [in this window] [in a new window]   Figure. CTSC gene mutation in the PAP patient. (A) DNA sequence of exon 4 showing the wild-type and the homozygous deletion of 7 basepairs. The parents and the patient’s sister carry the heterozygous mutation. (B) Changes produced at the nucleotide and amino acid levels. The affected nucleotides and amino acids are highlighted in red.

Journal of Dental Research, Vol. 83, No. 5, 368-370 (2004)
DOI: 10.1177/154405910408300503


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