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Article

Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients.

Human genomics - 15 Aug 2017

Zhytnik Lidiia, Maasalu Katre, Reimann Ene, Prans Ele, Kõks Sulev, Märtson Aare

Abstract excerpt

BACKGROUND: Osteogenesis imperfecta (OI) is a rare bone disorder. In 90% of cases, OI is caused by mutations in the COL1A1/2 genes, which code procollagen α1 and α2 chains. The main aim of the current research was to identify the mutational spectrum of COL1A1/2 genes in Estonian patients. The small population size of Estonia provides a unique chance to explore the collagen I mutational profile of 100% of OI...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28810924
DOI: 10.1186/s40246-017-0115-5
PMCID: PMC5558703

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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