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Article

(G586V) substitutions in the alpha 1 and alpha 2 chains of collagen I: effect of alpha-chain stoichiometry on the phenotype of osteogenesis imperfecta?

Human mutation - 1 Jan 1997

Lund A M, Skovby F, Schwartz M

Abstract excerpt

Osteogenesis imperfecta (OI) is a congenital disease of connective tissue, most often caused by single amino acid substitutions of glycine residues within the triple helical region of collagen I. Collagen I consists of two alpha 1 chains and one alpha 2 chain. Thus, a substitution in the alpha 1(I) chain is thought to affect the function of the collagen molecule more than would a similar substitution in the alpha...

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Identifiers

PMID: 9143923
DOI: 10.1002/(SICI)1098-1004(1997)9:5<431::AID-HUMU9>3.0.CO;2-6

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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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