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

A.K. Lampe, Y. Zou, D. Sudano, K.K. O'Brien, D. Hicks, S.H. Laval, R. Charlton, C. Jimenez-Mallebrera, R.Z. Zhang, R.S. Finkel, G. Tennekoon, G. Schreiber, M.S. van der Knaap, H. Marks, V. Straub, K.M. Flanigan, M.L. Chu, F. Muntoni, K.M.D. Bushby, c.g. Bonnemann

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)809-822
JournalHuman Mutation
Volume29
Issue number6
DOIs
Publication statusPublished - 2008

Cite this

Lampe, A. K., Zou, Y., Sudano, D., O'Brien, K. K., Hicks, D., Laval, S. H., ... Bonnemann, C. G. (2008). Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance. Human Mutation, 29(6), 809-822. https://doi.org/10.1002/humu.20704