title: Phenotypic variability in Marfan syndrome in a family with a novel nonsense FBN1 gene mutation.
authors.forename: Aránzazu
authors.initials: A
authors.lastname: Díaz de Bustamante
authors.forename: Eva
authors.initials: E
authors.lastname: Ruiz-Casares
authors.forename: M Teresa
authors.initials: MT
authors.lastname: Darnaude
authors.forename: Teresa
authors.initials: T
authors.lastname: Perucho
authors.forename: Gabriel
authors.initials: G
authors.lastname: Martínez-Quesada
mesh_terms: D000328:Adult; D001011:Aorta / Q000002:abnormalities; D018389:Codon, Nonsense; D004247:DNA / Q000235:genetics; D005091:Exons / Q000235:genetics; D005190:Family; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics* / Q000473:pathology*; D008840:Microfilament Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation / Q000502:physiology; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D054392:Adipokines
chemical_list: D018389:Codon, Nonsense; D004247:DNA; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines