Identification of a novel cathepsin C mutation (p.W185X) in a Brazilian kindred with Papillon–Lefèvre syndrome
- 30 June 2002
- journal article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 76 (2) , 145-147
- https://doi.org/10.1016/s1096-7192(02)00031-8
Abstract
No abstract availableKeywords
This publication has 7 references indexed in Scilit:
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- Cathepsin C gene: First compound heterozygous patient with Papillon‐Lefèvre syndrome and a novel symptomless mutationHuman Mutation, 2001
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- Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosisNature Genetics, 1999