title: Identification of a novel lethal fibrillin-1 gene mutation in a Chinese Marfan family and correlation of 3' fibrillin-1 gene mutations with phenotype.
authors.affiliation: Department of Cardiology, Fuwai Hospital and Cardiovascular Institute, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
authors.forename: Ling-gen
authors.initials: LG
authors.lastname: Gao
authors.forename: Lin
authors.initials: L
authors.lastname: Zhang
authors.forename: Lei
authors.initials: L
authors.lastname: Song
authors.forename: Hu
authors.initials: H
authors.lastname: Wang
authors.forename: Qian
authors.initials: Q
authors.lastname: Chang
authors.forename: Yong-bo
authors.initials: YB
authors.lastname: Wu
authors.forename: Ru-tai
authors.initials: RT
authors.lastname: Hui
authors.forename: Xian-liang
authors.initials: XL
authors.lastname: Zhou
mesh_terms: D000328:Adult; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005838:Genotype; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000209:etiology / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines