title: Novel mutation in exon 2 of COL2A1 gene in Japanese family with Stickler Syndrome type I.
authors: S
authors: S
authors: Yoshida
authors: Y
authors: Y
authors: Yamaji
authors: R
authors: R
authors: Kuwahara
authors: A
authors: A
authors: Yoshida
authors: T
authors: T
authors: Hisatomi
authors: A
authors: A
authors: Ueno
authors: T
authors: T
authors: Ishibashi
mesh_terms: D000328:Adult; D001483:Base Sequence; D024043:Collagen Type II / Q000235:genetics*; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D005260:Female; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D012163:Retinal Detachment / Q000235:genetics*; D013577:Syndrome
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II