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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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| 出版年: | Front Genet |
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| 主要な著者: | , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Frontiers Media S.A.
2019
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| 主題: | |
| オンライン･アクセス: | 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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