title: A novel G to A substitution at nucleotide 1734 of the FBN1 gene predicting a C534Y mutation responsible for marfan syndrome.
authors.affiliation: Department of Pediatrics, University of Connecticut Health Center, Farmington, Conn. 06030, USA.
authors.forename: M W
authors.initials: MW
authors.lastname: Kilpatrick
authors.forename: P
authors.initials: P
authors.lastname: Lembessis
authors.forename: E
authors.initials: E
authors.lastname: Rose
authors.forename: P
authors.initials: P
authors.lastname: Tsipouras
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D017354:Point Mutation; D054392:Adipokines
chemical_list: D004247:DNA; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines