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Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients
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...
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| Veröffentlicht in: | Hum Genomics |
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| Hauptverfasser: | , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BioMed Central
2017
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5558703/ https://ncbi.nlm.nih.gov/pubmed/28810924 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40246-017-0115-5 |
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