ロード中...

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...

詳細記述

保存先:
書誌詳細
主要な著者: Kloeckener-Gruissem, Barbara, Neidhardt, John, Magyar, István, Plauchu, Henri, Zech, Jean-Christophe, Morlé, Laurette, Palmer-Smith, Sheila M, MacDonald, Moira J, Nas, Véronique, Fry, Andrew E, Berger, Wolfgang
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group 2013
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
タグ: タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!