Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients
Abstract 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. Th...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2017-08-01
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| Series: | Human Genomics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s40246-017-0115-5 |