Article
Mutation in the COL2A1 gene in a patient with hypochondrogenesis. Expression of mutated COL2A1 gene is accompanied by expression of genes for type I procollagen in chondrocytes.
The Journal of biological chemistry - 6 May 1994
Freisinger P, Ala-Kokko L, LeGuellec D, Franc S, Bouvier R, Ritvaniemi P, Prockop D J, Bonaventure J
Abstract excerpt
A new dominant mutation in the COL2A1 gene was found in a 38-week-old fetus with hypochondrogenesis. Denaturing gradient gel electrophoresis was used to analyze all 44 exons coding for the triple-helical domain of COL2A1 gene and the corresponding exon-intron boundaries. The technique detected a...
Topics
- Adult
- Amino Acid Sequence
- Base Sequence
- Cartilage Diseases
- Collagen
- DNA
- Electrophoresis, Polyacrylamide Gel
- Female
- Fetal Diseases
- Fluorescent Antibody Technique
- Gene Expression
- Glycine
- Growth Plate
- Humans