Article
A mutation in the amino-terminal end of the triple helix of type II collagen causing severe osteochondrodysplasia.
Genomics - 1 Apr 1993
Vikkula M, Ritvaniemi P, Vuorio A F, Kaitila I, Ala-Kokko L, Peltonen L
Abstract excerpt
Type II collagen is coded by a large gene (COL2A1) consisting of 54 exons on chromosome 12. During the past few years several cartilage disorders have been linked to this gene, and some specific nucleotide changes have been identified in patients. In a spondyloepiphyseal form of chondrodysplasia,...
Topics
- Adolescent
- Base Sequence
- Collagen
- DNA
- DNA Mutational Analysis
- Humans
- Male
- Molecular Sequence Data
- Osteochondrodysplasias
- Pedigree
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Protein Structure, Secondary
- Radiography