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Article

Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia).

Genes - 10 Jan 2022

Nadyrshina Dina, Zaripova Aliya, Tyurin Anton, Minniakhmetov Ildar, Zakharova Ekaterina, Khusainova Rita

Abstract excerpt

Osteogenesis imperfecta (OI) is an inherited disease of bone characterized by increased bone fragility. Here, we report the results of the molecular architecture of osteogenesis imperfecta research in patients from Bashkortostan Republic, Russia. In total, 16 mutations in COL1A1, 11 mutations in COL1A2, and 1 mutation in P3H1 and IFIMT5 genes were found in isolated states; 11 of them were not previously reported...

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Identifiers

PMID: 35052464
DOI: 10.3390/genes13010124
PMCID: PMC8774438

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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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