title: A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype.
authors.forename: Am
authors.initials: A
authors.lastname: Lund
authors.forename: F
authors.initials: F
authors.lastname: Joensen
authors.forename: E
authors.initials: E
authors.lastname: Christensen
authors.forename: M
authors.initials: M
authors.lastname: Dunø
authors.forename: F
authors.initials: F
authors.lastname: Skovby
authors.forename: M
authors.initials: M
authors.lastname: Schwartz
mesh_terms: D002675:Child, Preschool; D024042:Collagen Type I / Q000737:chemistry / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D005190:Family; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010013:Osteogenesis Imperfecta / Q000235:genetics*; D017433:Protein Structure, Secondary
chemical_list: D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain