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Article

The A242T mutation in the low-density lipoprotein receptor-related protein 5 gene in one Chinese family with osteosclerosis.

Internal medicine (Tokyo, Japan) - 1 Jan 2013

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

Abstract excerpt

OBJECTIVE: Osteosclerosis (OMIM: 144750) is a type of autosomal dominant bone disease caused by a mutation in the low-density lipoprotein receptor-related protein 5 (LRP5) gene. The case of a Chinese family with two affected individuals is reported in the present study in order to investigate the...

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Source

Identifiers

PMID: 23318847
DOI: 10.2169/internalmedicine.52.8164

Genes

LRP5
PTH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23318847-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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