Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/s10038-019-0615-3.pdf
Reference20 articles.
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2. Toomes C, James J, Wood AJ, Wu CL, McCormick D, Lench N, et al. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis. Nat Genet. 1999;23:421–4.
3. Turk D, Janjic V, Stern I, Podobnik M, Lamba D, Dahl SW, et al. Structure of human dipeptidyl peptidase I (cathepsin C): exclusion domain added to an endopeptidase framework creates the machine for activation of granular serine proteases. EMBO J. 2001;20:6570–82.
4. Olsen JG, Kadziola A, Lauritzen C, Pedersen J, Larsen S, Dahl SW. Tetrameric dipeptidyl peptidase I directs substrate specificity by use of the residual pro-part domain. FEBS Lett. 2001;506:201–6.
5. Haneke E. The Papillon–Lefevre syndrome: keratosis palmoplantaris with periodontopathy. Report of a case and review of the cases in the literature. Hum Genet. 1979;51:1–35.
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