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Article

Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II.

Nature - 1 Jan 2000

Bonadio J, Byers P H

Abstract excerpt

Although the perinatal lethal form of osteogenesis imperfecta (OI type II) occasionally results from large rearrangements within the genes encoding type I collagen, most mutations are far more subtle. The complexity of the human collagen genes precludes cloning and sequencing each gene from every patient, and we have therefore developed an approach to localizing mutations at the protein level. We report here that...

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Identifiers

PMID: 4022126
DOI: 10.1038/316363a0

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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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Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II.PMID 4022126Read ↗

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