Novel human pathological mutations. Gene symbol: FBN1. Disease: Marfan syndrome.
Ellison
Jay
J
Mayo Clinic, 55905, Rochester, USA. ellison.jay@mayo.edu
D018389:Codon, Nonsense; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D054392:Adipokines
D018389:Codon, Nonsense; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines