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Article

Characterization of novel cathepsin K mutations in the pro and mature polypeptide regions causing pycnodysostosis.

The Journal of clinical investigation - 1 Mar 1999

Hou W S, Brömme D, Zhao Y, Mehler E, Dushey C, Weinstein H, Miranda C S, Fraga C, Greig F, Carey J, Rimoin D L, Desnick R J, Gelb B D

Abstract excerpt

Cathepsin K, a lysosomal cysteine protease critical for bone remodeling by osteoclasts, was recently identified as the deficient enzyme causing pycnodysostosis, an autosomal recessive osteosclerotic skeletal dysplasia. To investigate the nature of molecular lesions causing this disease, mutations...

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Identifiers

PMID: 10074491
DOI: 10.1172/JCI653
PMCID: PMC408114

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10074491-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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