A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.
Lu
J
J
Centre for the Study of Heritable Connective Tissue Diseases, Hospital for Sick Children, Toronto, Ontario, Canada.
Costa
T
T
Cole
W G
WG
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
D003094:Collagen; D000409:Alanine; D005998:Glycine