title: Gene symbol: COL1A1. Disease: Osteogenesis imperfecta type I.
authors.affiliation: Metro Health Medical Center, Cleveland, Ohio 44109, USA. ias@po.cwru.edu
authors.forename: I A
authors.initials: IA
authors.lastname: Schafer
authors.forename: J
authors.initials: J
authors.lastname: Stein
authors.forename: J C
authors.initials: JC
authors.lastname: Hyland
authors.forename: B
authors.initials: B
authors.lastname: Clark
mesh_terms: D024042:Collagen Type I / Q000096:biosynthesis / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D006801:Humans; D007438:Introns; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000235:genetics* / Q000378:metabolism; D017354:Point Mutation; D012326:RNA Splicing / Q000235:genetics; D020871:RNA Stability; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D012333:RNA, Messenger