Papillon–Lefèvre Syndrome: Mutations and Polymorphisms in the Cathepsin C Gene

Molecular cloning: A laboratory manual

Prescott L. Deininger · Analytical Biochemistry · 1990 · 86.2K citations

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Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Carmel Toomes, Jacqueline A. James, Andrew J. Wood et al. · Nature Genetics · 1999 · 493 citations · Full text

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Mutations of the cathepsin C gene are responsible for Papillon-Lefèvre syndrome

Thomas C. Hart, Patricia Hart, Donald W. Bowden et al. · Journal of Medical Genetics · 1999 · 338 citations · Full text

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The syndrome of palmar-plantar hyperkeratosis and premature periodontal destruction of the teeth

Robert J. Gorlin, Heddie O. Sedano, Valerie Anderson · The Journal of Pediatrics · 1964 · 260 citations

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Haim-Munk syndrome and Papillon-Lefèvre syndrome are allelic mutations in cathepsin C

Thomas C. Hart · Journal of Medical Genetics · 2000 · 227 citations · Full text

Medicine, Dermatology, Molecular Genetics +14