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Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome
Wagner syndrome (WS) is an autosomal dominant vitreoretinopathy affecting various ocular features and is caused by mutations in the canonical splice sites of the VCAN gene, which encodes the large chondroitin sulfate proteoglycan, versican. We report the identification of novel splice acceptor and d...
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| 主要な著者: | , , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Nature Publishing Group
2013
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3573191/ https://ncbi.nlm.nih.gov/pubmed/22739342 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.137 |
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