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Article

Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases.

The Journal of biological chemistry - 30 Nov 2007

Fresquet Maryline, Jowitt Thomas A, Ylöstalo Joni, Coffey Paul, Meadows Roger S, Ala-Kokko Leena, Thornton David J, Briggs Michael D

Abstract excerpt

Mutations in matrilin-3 result in multiple epiphyseal dysplasia, which is characterized by delayed and irregular bone growth and early onset osteoarthritis. The majority of disease-causing mutations are located within the beta-sheet of the single A-domain of matrilin-3, suggesting that they disrupt the structure and/or function of this important domain. Indeed, the expression of mutant matrilin-3 results in its...

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Identifiers

PMID: 17881354
DOI: 10.1074/jbc.M705301200
PMCID: PMC2673055

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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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Structural and functional characterization of recombinant matrilin-3 A-domain and implications for human genetic bone diseases.PMID 17881354Read ↗

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