title: Novel human pathological mutations. Gene symbol: COL1A1. Disease: osteogenesis imperfecta.
authors.affiliation: Medical Genetics, Mayo Clinic, Rochester, Minnesota 55905, USA. ellison.jay@mayo.edu
authors.forename: Jay
authors.initials: J
authors.lastname: Ellison
mesh_terms: D001483:Base Sequence; D003062:Codon / Q000235:genetics; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D003062:Codon; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain