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Article

Strategy for prenatal diagnosis of osteogenesis imperfecta by linkage analysis to the type I collagen loci COL1A1 and COL1A2.

Medical science monitor : international medical journal of experimental and clinical research - 1 Jan 2000

Benušienė E, Kučinskas V

Abstract excerpt

To improve prenatal diagnosis of osteogenesis imperfecta (OI) in Lithuania, possibilities of indirect molecular genetic diagnosis were investigated in 11 families with dominant OI. Segregation of polymorphic DNA markers closely linked to COL1A1 and COL1A2 genes with OI phenotype was investigated. Polymorphic DNA markers applied were individual haplotypes constructed using a set of restriction enzyme sites within...

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PMID: 11208313

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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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