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Article

Perinatal lethal osteogenesis imperfecta.

1 Apr 1995

Abstract excerpt

Perinatal lethal osteogenesis imperfecta is the result of heterozygous mutations of the COL1A1 and COL1A2 genes that encode the alpha 1(I) and alpha 2(I) chains of type I collagen, respectively. Point mutations resulting in the substitution of Gly residues in Gly-X-Y amino acid triplets of the triple helical domain of the alpha 1(I) or alpha 2(I) chains are the most frequent mutations. They interrupt the...

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Identifiers

PMID: 7643358
DOI: 10.1136/jmg.32.4.284

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Source receipt: pubmed, retrieved 7 Sept 2026.

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