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Article

A nonsense mutation in the cathepsin K gene observed in a family with pycnodysostosis.

Genome research - 1 Nov 1996

Johnson M R, Polymeropoulos M H, Vos H L, Ortiz de Luna R I, Francomano C A

Abstract excerpt

Pycnodysostosis (MIM 265800) is a rare, autosomal recessive skeletal dysplasia characterized by short stature, wide cranial sutures, and increased bone density and fragility. Linkage analysis localized the disease gene to human chromosome 1q21, and subsequently the genetic interval was narrowed to between markers D1S2612 and D1S2345. Expressed sequence tagged markers corresponding to cathepsin K, a cysteine...

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Identifiers

PMID: 8938428
DOI: 10.1101/gr.6.11.1050

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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