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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Bibliografske podrobnosti
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group 2013
Teme:
Short Report
Online dostop: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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