Tracing the pathway between mutation and phenotype in osteogenesis imperfecta: isolation of mineralization-specific genes.

Abstract excerpt

The brittleness of bone in people with lethal (type II) osteogenesis imperfecta, a heritable disorder caused by mutations in the type I collagen genes, arises from the deposition of abnormal collagen in the bone matrix. The inability of the abnormal collagen to participate in mineralization may be caused by its failure to interact with other bone proteins. Here, we have designed a strategy to isolate the genes...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Base Sequence
• Share to Cloning, Molecular
• Share to Collagen