Article
SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia.
American journal of human genetics - 1 Oct 1992
Sweetman W A, Rash B, Sykes B, Beighton P, Hecht J T, Zabel B, Thomas J T, Boot-Handford R, Grant M E, Wallis G A
Abstract excerpt
Type X collagen is a homotrimeric, short chain, nonfibrillar collagen that is expressed exclusively by hypertrophic chondrocytes at the sites of endochondral ossification. The distribution and pattern of expression of the type X collagen gene (COL10A1) suggests that mutations altering the structu...
Topics
- Base Sequence
- Collagen
- DNA
- DNA Restriction Enzymes
- Female
- Genetic Variation
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Oligodeoxyribonucleotides
- Osteochondrodysplasias
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Genetic