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Article

Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure.

Human mutation - 1 Nov 2014

Symoens Sofie, Hulmes David J S, Bourhis Jean-Marie, Coucke Paul J, De Paepe Anne, Malfait Fransiska

Abstract excerpt

The type I procollagen carboxyterminal(C-)propeptides are crucial in directing correct assembly of the procollagen heterotrimers. Defects in these domains have anecdotally been reported in patients with Osteogenesis Imperfecta (OI) and few genotype-phenotype correlations have been described. To gain insight in the functional consequences of C-propeptide defects, we performed a systematic review of clinical,...

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Identifiers

PMID: 25146735
DOI: 10.1002/humu.22677

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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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