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Article

A novel missense mutation in cathepsin K (CTSK) gene in a consanguineous Pakistani family with pycnodysostosis.

Journal of investigative medicine : the official publication of the American Federation for Clinical Research - 1 Jun 2010

Khan Bushra, Ahmed Zahoor, Ahmad Wasim

Abstract excerpt

BACKGROUND: Deficiency of cathepsin K (CTSK), a lysosomal cysteine protease, has been shown earlier as a cause of an autosomal recessive osteosclerotic skeletal dysplasia pycnodysostosis. The objective of the present study was to identify the potential sequence variants in CTSK gene in a large consanguineous Pakistani family with pycnodysostosis. METHODS: Genotyping of 4 affected and 6 unaffected members of the...

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Source

Identifiers

PMID: 20305575
DOI: 10.231/JIM.0b013e3181da50bd

Genes

CTSK

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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