title: Novel missense mutation in the COL3A1 gene caused vascular Ehlers-Danlos syndrome in a Chinese family.
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, China; Xiangtan Central Hospital, Xiangtan, China.
authors.forename: Fang
authors.initials: F
authors.lastname: He
authors.forename: Xianwei
authors.initials: X
authors.lastname: Wang
authors.forename: Xinzhang
authors.initials: X
authors.lastname: Cai
authors.forename: Hao
authors.initials: H
authors.lastname: Peng
authors.forename: Lusi
authors.initials: L
authors.lastname: Zhang
authors.forename: Tengfei
authors.initials: T
authors.lastname: Zhu
authors.forename: Kun
authors.initials: K
authors.lastname: Xia
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Zhengmao
authors.initials: Z
authors.lastname: Hu
mesh_terms: D000328:Adult; D002681:China; D024061:Collagen Type III / Q000235:genetics*; D004535:Ehlers-Danlos Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense
chemical_list: C439971:COL3A1 protein, human; D024061:Collagen Type III