Article
An intronic deletion leading to skipping of exon 21 of COL1A2 in a boy with mild osteogenesis imperfecta.
Connective tissue research - 1 Jan 1993
Superti-Furga A, Raghunath M, Pistone F M, Romano C, Steinmann B
Abstract excerpt
A mild form of osteogenesis imperfecta was diagnosed in a 5-year-old boy with short stature, osteoporosis, blueish sclerae, dentinogenesis imperfecta, hyperextensible joints and bruisable skin. His skin fibroblasts synthesized both normal and shortened pro-alpha 2(I) collagen chains. Procollagen I molecules containing the shortened pro-alpha 2 chains were unstable and thus virtually excluded from secretion at 37...
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