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

  1. Lookup NU author(s)
  2. Dr Anne Lampe
  3. Dr Debbie Hicks
  4. Dr Steven Laval
  5. Dr Richard Charlton
  6. Professor Volker Straub
  7. Professor Katherine Bushby
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
Publication type Article
JournalHuman Mutation
Year2008
Volume29
Issue6
Pages809-822
ISSN (print)1059-7794
ISSN (electronic)1098-1004
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PublisherJohn Wiley & Sons, Inc.
URLhttp://dx.doi.org/10.1002/humu.20704
DOI10.1002/humu.20704
PubMed id18366090
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