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Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
Lampe AK, Zou Y, Sudano D, O'Brien KK, Hicks D, Laval SH, Charlton R, Jimenez-Mallebrera C, Zhang RZ, Finkel RS, Tennekoon G, Schreiber G, van der Knaap MS, Marks H, Straub V, Flanigan KM, Chu ML, Muntoni F, Bushby KM, Bönnemann CG. Lampe AK, et al. Among authors: zhang rz. Hum Mutat. 2008 Jun;29(6):809-22. doi: 10.1002/humu.20704. Hum Mutat. 2008. PMID: 18366090
Cloning and chromosomal location of human alpha 1(XVI) collagen.
Pan TC, Zhang RZ, Mattei MG, Timpl R, Chu ML. Pan TC, et al. Among authors: zhang rz. Proc Natl Acad Sci U S A. 1992 Jul 15;89(14):6565-9. doi: 10.1073/pnas.89.14.6565. Proc Natl Acad Sci U S A. 1992. PMID: 1631157 Free PMC article.
245 results