Two novel mutations and a neutral polymorphism in EGF-like domains of the fibrillin gene (FBN1): SSCP screening of exons 15-21 in Marfan syndrome patients.
Hayward
C
C
Human Genetics Unit, University of Edinburgh, Western General Hospital, UK.
Rae
A L
AL
Porteous
M E
ME
Logie
L J
LJ
Brock
D J
DJ
D000328:Adult; D001483:Base Sequence; D004252:DNA Mutational Analysis; D004815:Epidermal Growth Factor / Q000737:chemistry; D005091:Exons; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D005796:Genes; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D011110:Polymorphism, Genetic; D017434:Protein Structure, Tertiary; D054392:Adipokines
D004815:Epidermal Growth Factor; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines