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Article

Ultrastructural defects of collagen VI filaments in an Ullrich syndrome patient with loss of the alpha3(VI) N10-N7 domains.

Journal of cellular physiology - 1 Jan 2006

Squarzoni Stefano, Sabatelli Patrizia, Bergamin Natascha, Guicheney Pascale, Demir Ercan, Merlini Luciano, Lattanzi Giovanna, Ognibene Andrea, Capanni Cristina, Mattioli Elisabetta, Columbaro Marta, Bonaldo Paolo, Maraldi Nadir Mario

Abstract excerpt

Ultrastructural alterations of collagen VI in cultured fibroblasts and reduced collagen VI immunostaining in the papillary dermis and endomysium were detected in a patient with a mild form of Ullrich congenital muscular dystrophy caused by a COL6A3 gene mutation. The patient had been previously demonstrated to express an alpha3(VI) chain shorter than normal due to skipping of the mutated exon. We show that...

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Identifiers

PMID: 15965965
DOI: 10.1002/jcp.20443

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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