Literature DB >> 3214058

Biochemical heterogeneity of type I collagen mutations in osteogenesis imperfecta.

J F Bateman1, D Chan, S Lamande, T Mascara, W G Cole.   

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Year:  1988        PMID： 3214058     DOI： 10.1111/j.1749-6632.1988.tb55321.x

Source DB:  PubMed          Journal:  Ann N Y Acad Sci        ISSN： 0077-8923            Impact factor:   5.691


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  3 in total

1.  Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method.

Authors:  J F Bateman; M Hannagan; D Chan; W G Cole
Journal:  Biochem J       Date:  1991-06-15       Impact factor: 3.857

2.  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.

Authors:  J F Bateman; D Chan; I Moeller; M Hannagan; W G Cole
Journal:  Biochem J       Date:  1994-09-15       Impact factor: 3.857

3.  Characterization of three osteogenesis imperfecta collagen alpha 1(I) glycine to serine mutations demonstrating a position-dependent gradient of phenotypic severity.

Authors:  J F Bateman; I Moeller; M Hannagan; D Chan; W G Cole
Journal:  Biochem J       Date:  1992-11-15       Impact factor: 3.857
  3 in total

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