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A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing the triple helix.
Bateman JF, Chan D, Moeller I, Hannagan M, Cole WG. Bateman JF, et al. Biochem J. 1994 Sep 15;302 ( Pt 3)(Pt 3):729-35. doi: 10.1042/bj3020729. Biochem J. 1994. PMID: 7945197 Free PMC article.
209 results