Novel p.M1T and recurrent p.G301S mutations in cathepsin C in a Japanese patient with Papillon-Lefèvre syndrome: Implications for understanding the genotype/phenotype relationship

Author:

Ochiai Toyoko,Nakano Hajime,Rokunohe Daiki,Akasaka Eijiro,Toyomaki Yuka,Mitsuhashi Yoshihiko,Sawamura Daisuke

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference9 articles.

1. Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome;Hart;J Med Genet,1999

2. Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis;Toomes;Nat Genet,1999

3. Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C;Hart;J Hum Genet,2000

4. Papillon-Lefèvre syndrome: mutations and polymorphisms in the cathepsin C gene;Nakano;J Invest Dermatol,2001

5. Comparison of initiation of protein synthesis in procaryotes, eucaryotes, and organellaes;Kozak;Microbiol Rev,1983

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