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Article

Identification of the CLCN7 gene mutations in two Chinese families with autosomal dominant osteopetrosis (type II).

Journal of bone and mineral metabolism - 1 Jan 2009

Zhang Zhen-Lin, He Jin-Wei, Zhang Hao, Hu Wei-Wei, Fu Wen-Zhen, Gu Jie-Mei, Yu Jin-Bo, Gao Gao, Hu Yun-Qiu, Li Miao, Liu Yu-Juan

Abstract excerpt

Here we report the identification of two different mutations in chloride channel 7 gene in two unrelated patients with autosomal dominant osteopetrosis type II. We determined that one patient (a 32-year-old woman) carried a heterozygous gene for a R767W mutation in exon 24, and another patient (a 17-year-old boy) carried a heterozygous gene for a novel frameshift mutation (Glu798FS) in exon 25. Recent studies...

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Source

Identifiers

PMID: 19288050
DOI: 10.1007/s00774-009-0051-0

Genes

CLCN7
ADO

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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