Condition: Osteogenesis Imperfecta
rs193922139 in
COL1A1 gene and
Osteogenesis Imperfecta
PMID 25963598 2015 Molecular Outcome, Prediction, and Clinical Consequences of Splice Variants in COL1A1, Which Encodes the proα1(I) Chains of Type I Procollagen.
PMID 17078022 2007 Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.
PMID 26712438 2016 Collagen Type I Alpha 1 Mutation Causes Osteogenesis Imperfecta from Mild to Perinatal Death in a Chinese Family.