title: Twelve novel FBN1 mutations in Marfan syndrome and Marfan related phenotypes test the feasibility of FBN1 mutation testing in clinical practice.
authors.forename: D J
authors.initials: DJ
authors.lastname: Halliday
authors.forename: S
authors.initials: S
authors.lastname: Hutchinson
authors.forename: L
authors.initials: L
authors.lastname: Lonie
authors.forename: J A
authors.initials: JA
authors.lastname: Hurst
authors.forename: H
authors.initials: H
authors.lastname: Firth
authors.forename: P A
authors.initials: PA
authors.lastname: Handford
authors.forename: P
authors.initials: P
authors.lastname: Wordsworth
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002851:Chromatography, High Pressure Liquid / Q000379:methods; D004252:DNA Mutational Analysis / Q000379:methods; D004591:Electrophoresis, Polyacrylamide Gel / Q000379:methods; D000071838:Fibrillin-1; D000071837:Fibrillins; D005784:Gene Amplification / Q000235:genetics; D020180:Heteroduplex Analysis / Q000379:methods; D006801:Humans; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009690:Nucleic Acid Conformation; D009691:Nucleic Acid Denaturation / Q000235:genetics; D010641:Phenotype; D054392:Adipokines
chemical_list: D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines