title: A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.
authors.affiliation: Centre for the Study of Heritable Connective Tissue Diseases, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: J
authors.initials: J
authors.lastname: Lu
authors.forename: T
authors.initials: T
authors.lastname: Costa
authors.forename: W G
authors.initials: WG
authors.lastname: Cole
mesh_terms: D000409:Alanine; D001483:Base Sequence; D003094:Collagen / Q000737:chemistry / Q000235:genetics*; D005260:Female; D005998:Glycine; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009690:Nucleic Acid Conformation; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation
chemical_list: D003094:Collagen; D000409:Alanine; D005998:Glycine