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Procollagen C proteinase enhancer 1 genes are important determinants of the mechanical properties and geometry of bone and the ultrastructure of connective tissues.
Steiglitz BM, Kreider JM, Frankenburg EP, Pappano WN, Hoffman GG, Meganck JA, Liang X, Höök M, Birk DE, Goldstein SA, Greenspan DS. Steiglitz BM, et al. Among authors: hoffman gg. Mol Cell Biol. 2006 Jan;26(1):238-49. doi: 10.1128/MCB.26.1.238-249.2006. Mol Cell Biol. 2006. PMID: 16354695 Free PMC article.
Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I.
Takahara K, Schwarze U, Imamura Y, Hoffman GG, Toriello H, Smith LT, Byers PH, Greenspan DS. Takahara K, et al. Among authors: hoffman gg. Am J Hum Genet. 2002 Sep;71(3):451-65. doi: 10.1086/342099. Epub 2002 Jul 17. Am J Hum Genet. 2002. PMID: 12145749 Free PMC article.
38 results