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Browsing "Li Ka Shing Faculty of Medicine" by Author moeller, i
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Showing results 1 to 3 of 3
Title
Author(s)
Issue Date
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
Bateman, JF
Chan, D
Moeller, I
Hannagan, M
Cole, WG
1994
Characterization of three osteogenesis imperfecta collagen α1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity
Journal:
Biochemical Journal
Bateman, JF
Moeller, I
Hannagan, M
Chan, D
Cole, WG
1992
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
Bateman, JF
Moeller, I
Hannagan, M
Chan, D
Cole, WG
1992