Article
Novel mutations of the cathepsin K gene in patients with pycnodysostosis and their characterization.
The Journal of clinical endocrinology and metabolism - 1 Jan 2000
Fujita Y, Nakata K, Yasui N, Matsui Y, Kataoka E, Hiroshima K, Shiba R I, Ochi T
Abstract excerpt
Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by short stature, osteosclerosis, acroosteolysis, bone fragility, and skull deformities. Recently, mutations in the gene encoding cathepsin K (CK), a lysosomal cysteine protease localized exclusively in osteoclasts, were found to be responsible for this disease. We analyzed genomic DNA from four unrelated Japanese patients with this...
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