Demonstration of Altered Splicing with the IVS3-1G → A Mutation of Cathepsin C
- 1 March 2002
- journal article
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 75 (3) , 280-283
- https://doi.org/10.1006/mgme.2002.3304
Abstract
No abstract availableKeywords
This publication has 6 references indexed in Scilit:
- Evidence of a founder effect for four cathepsin C gene mutations in Papillon-Lefevre syndrome patientsJournal of Medical Genetics, 2001
- Papillon–Lefèvre Syndrome: Mutations and Polymorphisms in the Cathepsin C GeneJournal of Investigative Dermatology, 2001
- Cathepsin C gene: First compound heterozygous patient with Papillon‐Lefèvre syndrome and a novel symptomless mutationHuman Mutation, 2001
- Identification of cathepsin C mutations in ethnically diverse Papillon-Lefevre syndrome patientsJournal of Medical Genetics, 2000
- Haim-Munk syndrome and Papillon-Lefevre syndrome are allelic mutations in cathepsin CJournal of Medical Genetics, 2000
- Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosisNature Genetics, 1999