title: Novel human pathological mutations. Gene symbol: COL1A2. Disease: osteogenesis imperfecta IV.
authors.affiliation: Department of Pediatrics, Mackay Memorial Hospital and Mackay Medicine, Nursing and Management College, Taipei, Taiwan, ROC. lxc46199@ms37.hinet.net
authors.forename: Hsiang-Yu
authors.initials: HY
authors.lastname: Lin
authors.forename: Shuan-Pei
authors.initials: SP
authors.lastname: Lin
authors.forename: Chih-Kuang
authors.initials: CK
authors.lastname: Chuang
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D003094:Collagen / Q000235:genetics*; D024042:Collagen Type I; D006801:Humans; D020125:Mutation, Missense; D010013:Osteogenesis Imperfecta / Q000235:genetics
chemical_list: D003062:Codon; D003094:Collagen; D024042:Collagen Type I