Article
Multiexon deletions in the type I collagen COL1A2 gene in osteogenesis imperfecta type IB. Molecules containing the shortened alpha2(I) chains show differential incorporation into the bone and skin extracellular matrix.
The Journal of biological chemistry - 30 Aug 1996
Mundlos S, Chan D, Weng Y M, Sillence D O, Cole W G, Bateman J F
Abstract excerpt
Osteogenesis imperfecta (OI) type IB is a rare subset of the mildest form of OI, clinically characterized by moderate bone fragility, blue sclera, and dentinogenesis imperfecta. Cultured skin fibroblasts from two unrelated individuals (OI-197 and OI-165) with the typical features of OI type IB pr...
Topics
- Adolescent
- Amino Acid Sequence
- Base Sequence
- Bone and Bones
- Cells, Cultured
- Child
- Collagen
- DNA, Complementary
- Exons
- Extracellular Matrix
- Female
- Humans
- Male
- Molecular Sequence Data
- Mutation