Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II.

doi:10.1038/316363a0

Back to search

Article

Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II.

Nature - 1 Jan 2000

Bonadio J, Byers P H

Abstract excerpt

Although the perinatal lethal form of osteogenesis imperfecta (OI type II) occasionally results from large rearrangements within the genes encoding type I collagen, most mutations are far more subtle. The complexity of the human collagen genes precludes cloning and sequencing each gene from every...

Topics

Collagen
Electrophoresis, Polyacrylamide Gel
Humans
Infant
Mutation
Osteogenesis Imperfecta
Peptides
Phenotype
Procollagen
Protein Conformation
Protein Processing, Post-Translational

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.