Single Base Mutation in the Proα 2(I) Collagen Gene that Causes Efficient Splicing of RNA from Exon 27 to Exon 29 and Synthesis of a Shortened but In-Frame Proα 2(I) Chain

Splice site mutation causing deletion of

Splice site mutation causing deletion of exon 21 sequences from the proα2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta

✍ Alan C. Nicholls; Jane Oliver; Seamus McCarron; Gerald B. Winter; F. Michael Pop 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 672 KB

Communicated by Alec J. Jefieys An eight-year-old boy was referred for dental assessment of dentinogenesis imperfecta, a full clinical examination also revealed joint hypermobility and some features of mild osteogenesis imperfecta although he had suffered few fractures. Analysis of the collagens pro