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Article

In vitro and in silico analysis of a E559K mutation on cartilage oligomeric matrix protein.

Mutation research - 1 Jan 2000

Qiu Jiahui, Tan Jichun

Abstract excerpt

Pseudoachondroplasia (PSACH) is known as an autosomal dominant disorder associated with mutations in the gene of cartilage oligomeric matrix protein (COMP). The pathomolecular mechanisms of PSACH as a result of C-terminal globular region (CTD) mutations remain unclear. A heterozygous mutation (E559 K) in a Chinese family diagnosed with PSACH was reported in this study. To understand the pathogenesis of this...

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Identifiers

PMID: 35077910
DOI: 10.1016/j.mrfmmm.2022.111774

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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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In vitro and in silico analysis of a E559K mutation on cartilage oligomeric matrix protein.PMID 35077910Read ↗

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