Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome

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Author
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
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Date
2013-03
Type
    Journal Article
Publication status
published
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Journal / series
European Journal of Human Genetics
Volume
21(3)
Pages / Article No.
352 - 356
Publisher
Nature Publishing Group
Subject
Wagner syndrome; Erosive vitreoretinopathy; VCAN; Splicing
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Citations
Cited 15 times in Web of Science
ETH Bibliography
yes
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