Confirmation of oxidative stress and fatty acid disturbances in two further Papillon-Lefèvre syndrome families with identification of a new mutation

Author:

Bullón P.1,Morillo J.M.1,Thakker N.2,Veeramachaneni R.2,Quiles J.L.3,Ramírez-Tortosa M.C.4,Jaramillo R.1,Battino M.5

Affiliation:

1. Department of Periodontology; Facultad de Odontología; University of Sevilla; Sevilla Spain

2. Department of Medical Genetics; University of Manchester; Manchester UK

3. Department of Physiology; Institute of Nutrition and Food Technology; University of Granada; Granada Spain

4. Department of Biochemistry and Molecular Biology II; Institute of Nutrition and Food Technology; University of Granada; Granada Spain

5. Dipartimento di Scienze Cliniche Specialistiche ed Odontostomatologiche, Sez. Biochimica; Università Politecnica delle Marche; Ancona Italy

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Reference45 articles.

1. Dense cas de keratodermie palmaire et plantaire symetrique familiale (Maladie de Meleda) chez la frere et la soeur. Coexistence dans les deux cas d'alterations dentaires graves;Papillon;Bull Soc Fr Dermatol Syphilogr,1924

2. The syndrome of palmar-plantar hyperkeratosis and premature periodontal destruction of the teeth;Gorlin;J Pediatr,1964

3. Increased susceptibility to infections in the Papillon-Lefevre syndrome;Haneke;Dermatologica,1975

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

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

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