title: A novel mutation in intron 11 of the COL2A1 gene in a patient with type 1 Stickler syndrome.
authors.affiliation: Wilmer Eye Institute, Johns Hopkins Medical Institutes, Baltimore, MD 21287, USA.
authors.forename: L
authors.initials: L
authors.lastname: Leung
authors.forename: J C
authors.initials: JC
authors.lastname: Hyland
authors.forename: A
authors.initials: A
authors.lastname: Young
authors.forename: M F
authors.initials: MF
authors.lastname: Goldberg
authors.forename: J T
authors.initials: JT
authors.lastname: Handa
mesh_terms: D001483:Base Sequence; D002648:Child; D024043:Collagen Type II / Q000235:genetics*; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009216:Myopia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012163:Retinal Detachment / Q000235:genetics; D012167:Retinal Perforations / Q000235:genetics*; D013577:Syndrome; D041623:Tomography, Optical Coherence; D014822:Vitreous Body / Q000002:abnormalities*
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II