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Article

Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II.

The American journal of pathology - 1 May 2004

Henriksen Kim, Gram Jeppe, Schaller Sophie, Dahl Bjarne H, Dziegiel Morten H, Bollerslev Jens, Karsdal Morten A

Abstract excerpt

Autosomal dominant osteopetrosis II (ADOII) is a relatively benign disorder caused by a missense mutation in the ClCN7 gene. In this study, we characterize the osteoclasts from patients with ADOII, caused by a G215R mutation, and investigate the effect on osteoclast function in vitro. Osteoclasts from ADOII patients and healthy age- and sex-matched controls, were used to evaluate osteoclastogenesis, cell fusion,...

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Identifiers

PMID: 15111300
DOI: 10.1016/S0002-9440(10)63712-1
PMCID: PMC1615650

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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