title: A new missense mutation of fibrillin in a patient with Marfan syndrome.
abstract: A patient with Marfan syndrome was shown to be heterozygous for a G to A transition at nucleotide 3952 of the FBNI gene. This would result in a cysteine to tyrosine substitution at amino acid 1223 in the fibrillin protein.
authors.affiliation: Collagen Genetics Group, University of Oxford, John Radcliffe Hospital, Headington, UK.
authors.forename: D R
authors.initials: DR
authors.lastname: Hewett
authors.forename: J R
authors.initials: JR
authors.lastname: Lynch
authors.forename: A
authors.initials: A
authors.lastname: Child
authors.forename: B C
authors.initials: BC
authors.lastname: Sykes
mesh_terms: D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D005260:Female; D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation
chemical_list: D000071837:Fibrillins; D008840:Microfilament Proteins