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Article

The virulence gene and clinical phenotypes of osteopetrosis in the Chinese population: six novel mutations of the CLCN7 gene in twelve osteopetrosis families.

Journal of bone and mineral metabolism - 1 May 2012

Wang Chun, Zhang Hao, He Jin-Wei, Gu Jie-Mei, Hu Wei-Wei, Hu Yun-Qiu, Li Miao, Liu Yu-Juan, Fu Wen-Zhen, Yue Hua, Ke Yao-Hua, Zhang Zhen-Lin

Abstract excerpt

Osteopetrosis is a heritable bone disorder resulting from a deficiency of or a functional defect in osteoclasts. We aimed to characterize the molecular defects and clinical manifestations in Chinese patients with osteopetrosis by studying 12 unrelated osteopetrosis families. The entire coding region and adjacent splice sites of the CLCN7, TCIRG1, LRP5 and SOST genes were amplified and directly sequenced. X-rays...

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Source

Identifiers

PMID: 21947783
DOI: 10.1007/s00774-011-0319-z

Genes

CLCN7
LRP5
SOST
TCIRG1

Provenance

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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