Article
Deletion of 19 base pairs in intron 13 of the gene for the pro alpha 2(I) chain of type-I procollagen (COL1A2) causes exon skipping in a proband with type-I osteogenesis imperfecta.
Human genetics - 1 Apr 1993
Zhuang J, Tromp G, Kuivaniemi H, Nakayasu K, Prockop D J
Abstract excerpt
Skin fibroblasts from a proband with mild osteogenesis imperfecta (type I) synthesized normal pro alpha 2(I) chains and shortened pro alpha 2(I) chains of type-I procollagen. The type-I collagen that contained the shortened alpha 2(I) chains was thermally unstable in that it was cleaved at 30 degrees C by a mixture of trypsin and chymotrypsin. The mutation generating the shortened pro alpha 2(I) chains was shown...
Topics
- Adolescent
- Base Composition
- Base Sequence
- Cells, Cultured
- DNA
- Exons
- Female
- Humans
- Introns
- Male
- Molecular Sequence Data