Publication:

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance (2008)

Author(s): Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang R-Z, Finkel RS, Tennekoon G, Schreiber G, Van Der Knaap MS, Marks H, Straub V, Flanigan KM, Chu M-L, Muntoni F, Bushby KMD, Bonnemann CG

      • Journal: Human Mutation
      • Volume: 29
      • Issue: 6
      • Pages: 809-822
      • Publisher: John Wiley & Sons, Inc.
      • Publication type: Article
      • Bibliographic status: Published
      Staff

      Professor Volker Straub
      Harold Macmillan Professor of Medicine