title: Novel frameshift mutations in the procollagen 2 gene (COL2A1) associated with Stickler syndrome (hereditary arthro-ophthalmopathy).
authors.affiliation: Department of Ophthalmology, University of Iowa College of Medicine, Iowa City 52242, USA.
authors.forename: D M
authors.initials: DM
authors.lastname: Brown
authors.forename: K
authors.initials: K
authors.lastname: Vandenburgh
authors.forename: A E
authors.initials: AE
authors.lastname: Kimura
authors.forename: T A
authors.initials: TA
authors.lastname: Weingeist
authors.forename: V C
authors.initials: VC
authors.lastname: Sheffield
authors.forename: E M
authors.initials: EM
authors.lastname: Stone
mesh_terms: D001483:Base Sequence; D002357:Cartilage Diseases / Q000235:genetics*; D017931:DNA Primers; D016368:Frameshift Mutation; D006801:Humans; D008969:Molecular Sequence Data; D009216:Myopia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011347:Procollagen / Q000235:genetics*; D012163:Retinal Detachment / Q000235:genetics*; D013577:Syndrome
chemical_list: D017931:DNA Primers; D011347:Procollagen