title: Novel de novo nonsense mutation of FBN1 gene in a patient with Marfan syndrome.
authors.affiliation: Department of Pediatrics, Konyang University Hospital, 685 Gasoowon-Dong, Su-Goo, Daejun 302-718, Republic of Korea.
authors.forename: Young-Hwa
authors.initials: YH
authors.lastname: Song
authors.forename: Gu-Hwan
authors.initials: GH
authors.lastname: Kim
authors.forename: Han-Wook
authors.initials: HW
authors.lastname: Yoo
authors.forename: June-Bum
authors.initials: JB
authors.lastname: Kim
mesh_terms: D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D000071838:Fibrillin-1; D000071837:Fibrillins; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis* / Q000235:genetics; D008840:Microfilament Proteins / Q000235:genetics*; D020125:Mutation, Missense; D010375:Pedigree; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines