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TypeTitleAuthor(s)YearViews
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 helix
Journal:
Biochemical Journal
Publisher:
Portland Press Ltd. The Journal's web site is located at http://www.biochemj.org
Bateman, JF; Chan, D; Moeller, I; Hannagan, M; Cole, WG1994143
 
Characterization of three osteogenesis imperfecta collagen α1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity
Journal:
Biochemical Journal
Publisher:
Portland Press Ltd. The Journal's web site is located at http://www.biochemj.org
Bateman, JF; Moeller, I; Hannagan, M; Chan, D; Cole, WG1992182
 
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 mismatch
Journal:
Human Mutation
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/38515
Bateman, JF; Moeller, I; Hannagan, M; Chan, D; Cole, WG1992164
 
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 method
Journal:
Biochemical Journal
Publisher:
Portland Press Ltd. The Journal's web site is located at http://www.biochemj.org
Bateman, JF; Hannagan, M; Chan, D; Cole, WG1991100
 
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