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Article

Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Aug 2003

Waguespack Steven G, Koller Daniel L, White Kenneth E, Fishburn Tonya, Carn Gwenaelle, Buckwalter Kenneth A, Johnson Michelle, Kocisko Maureen, Evans Wayne E, Foroud Tatiana, Econs Michael J

Abstract excerpt

UNLABELLED: ADO2 is an uncommon sclerosing bone disorder with incomplete penetrance and variable expressivity. Positional candidate studies were performed to identify the gene responsible for ADO2. In 11 of 12 kindreds, five different missense mutations were identified in the ClCN7 gene, indicati...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12929941
DOI: 10.1359/jbmr.2003.18.8.1513

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12929941-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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