Concepedia

Netherton Syndrome: Disease Expression and Spectrum of SPINK5 Mutations in 21 Families

Emmanuelle Bitoun, Stéphane Chavanas, Alan D. Irvine, Lorne Lonie, Christine Bodemer, Mauro Paradisi, Dominique Hamel‐Teillac, Shin‐ichi Ansai, Yoshihiko Mitsuhashi, Y. De Prost,

Journal of Investigative Dermatology · 2002 · 213 citations · 21 references

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21

Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis

Heiko Witt, W. A. P. Luck, Hans Christian Hennies et al. · Nature Genetics · 2000 · 1K citations

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Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome

Stéphane Chavanas, Christine Bodemer, Ariane Rochat et al. · Nature Genetics · 2000 · 845 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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A Unique Case of Trichorrhexis Nodosa—"Bamboo Hairs"

E. W. Netherton · Archives of Dermatology · 1958 · 266 citations

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LEKTI, a Novel 15-Domain Type of Human Serine Proteinase Inhibitor

Hans‐Jürgen Mägert, Ludger Ständker, Peter Kreutzmann et al. · Journal of Biological Chemistry · 1999 · 247 citations · Full text

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