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Article

A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.

American journal of human genetics - 12 Feb 2010

Stattin Eva-Lena, Wiklund Fredrik, Lindblom Karin, Onnerfjord Patrik, Jonsson Björn-Anders, Tegner Yelverton, Sasaki Takako, Struglics André, Lohmander Stefan, Dahl Niklas, Heinegård Dick, Aspberg Anders

Abstract excerpt

Osteochondritis dissecans is a disorder in which fragments of articular cartilage and subchondral bone dislodge from the joint surface. We analyzed a five-generation family in which affected members had autosomal-dominant familial osteochondritis dissecans. A genome-wide linkage analysis identifi...

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Share to Aggrecans
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 20137779
DOI: 10.1016/j.ajhg.2009.12.018
PMCID: PMC2820178

Genes

ACAN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20137779-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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