title: Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta.
authors.affiliation: Genetics Unit, Shriners Hospital for Crippled Children, Montreal, Quebec, Canada.
authors.forename: R
authors.initials: R
authors.lastname: Sztrolovics
authors.forename: F H
authors.initials: FH
authors.lastname: Glorieux
authors.forename: M
authors.initials: M
authors.lastname: van der Rest
authors.forename: P J
authors.initials: PJ
authors.lastname: Roughley
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002460:Cell Line; D003062:Codon / Q000235:genetics; D003094:Collagen / Q000235:genetics*; D005260:Female; D005347:Fibroblasts / Q000378:metabolism / Q000473:pathology; D005998:Glycine; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008969:Molecular Sequence Data; D009692:Nucleic Acid Heteroduplexes / Q000302:isolation & purification / Q000378:metabolism; D010013:Osteogenesis Imperfecta / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D017354:Point Mutation; D012333:RNA, Messenger / Q000302:isolation & purification / Q000378:metabolism; D012694:Serine; D012867:Skin / Q000473:pathology; D014633:Valine
chemical_list: D003062:Codon; D009692:Nucleic Acid Heteroduplexes; D012333:RNA, Messenger; D012694:Serine; D003094:Collagen; D014633:Valine; D005998:Glycine