Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis-Reference-Cited by-同舟云学术

Exome sequencing identifies a novel missense variant in CTSC causing nonsyndromic aggressive periodontitis

Published:2019-05-08 Issue:7 Volume:64 Page:689-694
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Molitor Anne,Prud’homme Tony,Miao Zhichao,Conrad Solène^ORCID,Bloch-Zupan Agnès,Pichot Angélique,Hanauer Antoine,Isidor Bertrand,Bahram Seiamak^ORCID,Carapito Raphael^ORCID

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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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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