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
ISSN (print)1059-7794
ISSN (electronic)1098-1004
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PublisherJohn Wiley & Sons, Inc.
PubMed id18366090
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