1999•The American Journal of Human GeneticsOpen access

Redefinition of Exon 7 in the COL1A1 Gene of Type I Collagen by an Intron 8 Splice-Donor–Site Mutation in a Form of Osteogenesis Imperfecta: Influence of Intron Splice Order on Outcome of Splice-Site Mutation

Ulrike Schwarze, Barbra J. Starman, Peter H. Byers

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Key concepts: Intron, Exon, Splice site mutation, Exon trapping, Exon shuffling, Biology, RNA splicing, splice

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Redefinition of Exon 7 in the COL1A1 Gene of Type I Collagen by an Intron 8 Splice-Donor–Site Mutation in a Form of Osteogenesis Imperfecta: Influence of Intron Splice Order on Outcome of Splice-Site Mutation — Research Paper | ScholarLens