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Article

Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism.

European journal of human genetics : EJHG - 1 Jan 1996

Lund A M, Schwartz M, Raghunath M, Steinmann B, Skovby F

Abstract excerpt

A proband with osteogenesis imperfecta (OI) type III/IV was born to clinically normal parents, who subsequently had two pregnancies terminated because of OI in the fetuses. Cultured fibroblasts from the proband, one fetus and the father produced abnormal collagen I. Cyanogen bromide mapping localised the defect to the region of the alpha 1(I)CB7 peptide. Sequencing revealed a G to A transition at nucleotide 2814...

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Identifiers

PMID: 8800927
DOI: 10.1159/000472168

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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