Results 1 to 4 of 4
Page 1 of 1
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 proα1(I) chains with a non-collagenous insertion destabilizing the triple helixBateman, JF; Chan, D; Moeller, I; Hannagan, M; Cole, WG199495
Characterization of three osteogenesis imperfecta collagen α1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severityBateman, JF; Moeller, I; Hannagan, M; Chan, D; Cole, WG1992100
Lethal perinatal osteogenesis imperfecta due to a type I collagen α2(I) gly to arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatchBateman, JF; Moeller, I; Hannagan, M; Chan, D; Cole, WG1992105
Characterization of a type I collagen α2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage methodBateman, JF; Hannagan, M; Chan, D; Cole, WG199168
Page 1 of 1
Export Records
Step 1: Select content and export format
  • Citation only
Step 2: Select export method
  • Download