Mutations That Alter the Carboxy‐Terminal‐Propeptide Cleavage Site of the Chains of Type I Procollagen Are Associated With a Unique Osteogenesis Imperfecta Phenotype
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DOI: 10.1002/jbmr.3424
Abstract: Osteogenesis imperfecta (OI) is a genetic bone disorder characterized by fractures, low bone mass, and skeletal fragility. It most commonly arises from dominantly inherited mutations in the genes COL1A1 and COL1A2 that encode the chains… read more here.
Keywords: bone; osteogenesis imperfecta; propeptide cleavage; cleavage site ... See more keywords