title: Osteogenesis imperfecta: translation of mutation to phenotype.
authors.affiliation: Department of Pathology, University of Washington, Seattle 98195.
authors.forename: P H
authors.initials: PH
authors.lastname: Byers
authors.forename: G A
authors.initials: GA
authors.lastname: Wallis
authors.forename: M C
authors.initials: MC
authors.lastname: Willing
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D002872:Chromosome Deletion; D003094:Collagen / Q000096:biosynthesis; D004252:DNA Mutational Analysis; D005091:Exons; D016368:Frameshift Mutation; D005786:Gene Expression Regulation; D005796:Genes; D005804:Genes, Lethal; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D010641:Phenotype; D011347:Procollagen / Q000235:genetics; D011487:Protein Conformation
chemical_list: D011347:Procollagen; D003094:Collagen