Article
Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia.
Proceedings of the National Academy of Sciences of the United States of America - 1 Sept 1990
Ala-Kokko L, Baldwin C T, Moskowitz R W, Prockop D J
Abstract excerpt
A cosmid clone was isolated that contained an allele for the type II procollagen gene previously shown to be coinherited with primary generalized osteoarthritis in a large family. Affected members of the family had evidence of a mild chondrodysplasia, but they developed progressive osteoarthritic changes in many joints that had no epiphyseal deformities. The clone contained 52 of the 54 exons of the gene....
Topics
- Alleles
- Amino Acid Sequence
- Base Sequence
- Cosmids
- Female
- Genes
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Nucleic Acid Hybridization