Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia...
Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)
About this item
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Publisher
Switzerland: MDPI AG
Journal title
Language
English
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Publication information
Publisher
Switzerland: MDPI AG
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Scope and Contents
Contents
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...
Alternative Titles
Full title
Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8774438
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8774438
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes13010124
