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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5558703/ https://www.ncbi.nlm.nih.gov/pubmed/28810924 http://dx.doi.org/10.1186/s40246-017-0115-5 |