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Validation and Classification of Atypical Splicing Variants Associated With Osteogenesis Imperfecta
Osteogenesis Imperfecta (OI) is a rare inherited bone dysplasia, which is mainly caused by mutations in genes encoding type I collagen including COL1A1 and COL1A2. It has been well established to identify the classical variants as well as consensus splicing-site-variants in these genes in our previo...
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| Publié dans: | Front Genet |
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| Auteurs principaux: | , , , , , , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Frontiers Media S.A.
2019
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6832110/ https://ncbi.nlm.nih.gov/pubmed/31737030 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2019.00979 |
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