Article
An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.
American journal of human genetics - 1 Feb 1995
Tiller G E, Weis M A, Polumbo P A, Gruber H E, Rimoin D L, Cohn D H, Eyre D R
Abstract excerpt
Defects in type II collagen have been demonstrated in a phenotypic continuum of chondrodysplasias that includes achondrogenesis II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita (SEDC), Kniest dysplasia, and Stickler syndrome. We have determined that cartilage from a terminated fetus...
Topics
- Adult
- Base Sequence
- Cartilage
- Child
- Collagen
- Family
- Female
- Fetus
- Humans
- Introns
- Male
- Molecular Sequence Data
- Mutation
- Osteochondrodysplasias
- Pregnancy
- Procollagen
- RNA Splicing
- Sequence Deletion