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Article

Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta.

The Journal of biological chemistry - 6 Jun 2008

Pace James M, Wiese Mary, Drenguis Andrea S, Kuznetsova Natalia, Leikin Sergey, Schwarze Ulrike, Chen Diana, Mooney Suzanne H, Unger Sheila, Byers Peter H

Abstract excerpt

Type I procollagen is a heterotrimer composed of two proalpha1(I) chains and one proalpha2(I) chain, encoded by the COL1A1 and COL1A2 genes, respectively. Mutations in these genes usually lead to dominantly inherited forms of osteogenesis imperfecta (OI) by altering the triple helical domains, but a few affect sequences in the proalpha1(I) C-terminal propeptide (C-propeptide), and one, which has a phenotype only...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18375391
DOI: 10.1074/jbc.M801982200
PMCID: PMC2414283

Genes

COL1A2
COL1A1

Provenance

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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Defective C-propeptides of the proalpha2(I) chain of type I procollagen impede molecular assembly and result in osteogenesis imperfecta.PMID 18375391Read ↗

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