title: Patient with the vascular type of Ehlers-Danlos syndrome, with a novel point-mutation in the COL3A1 gene.
authors.forename: Yayoi
authors.initials: Y
authors.lastname: Shimaoka
authors.forename: Shujiro
authors.initials: S
authors.lastname: Hayashi
authors.forename: Yoichiro
authors.initials: Y
authors.lastname: Hamasaki
authors.forename: Keita
authors.initials: K
authors.lastname: Terui
authors.forename: Atsushi
authors.initials: A
authors.lastname: Hatamochi
mesh_terms: D000293:Adolescent; D024061:Collagen Type III / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D017354:Point Mutation; D014652:Vascular Diseases / Q000235:genetics
chemical_list: C439971:COL3A1 protein, human; D024061:Collagen Type III