Article
Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17.
Proceedings of the National Academy of Sciences of the United States of America - 2 Feb 1999
Bank R A, Robins S P, Wijmenga C, Breslau-Siderius L J, Bardoel A F, van der Sluijs H A, Pruijs H E, TeKoppele J M
Abstract excerpt
Bruck syndrome is characterized by the presence of osteoporosis, joint contractures, fragile bones, and short stature. We report that lysine residues within the telopeptides of collagen type I in bone are underhydroxylated, leading to aberrant crosslinking, but that the lysine residues in the tri...
Topics
- Adolescent
- Bone Diseases
- Bone and Bones
- Child
- Child, Preschool
- Chromosome Mapping
- Chromosomes, Human, Pair 17
- Collagen
- Collagen Type I
- Consanguinity
- Contracture
- Female
- Genetic Markers
- Genome, Human