A novel G to A substitution at nucleotide 1734 of the FBN1 gene predicting a C534Y mutation responsible for marfan syndrome.
Kilpatrick
M W
MW
Department of Pediatrics, University of Connecticut Health Center, Farmington, Conn. 06030, USA.
Lembessis
P
P
Rose
E
E
Tsipouras
P
P
D000328:Adult; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D000071838:Fibrillin-1; D000071837:Fibrillins; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation; D017354:Point Mutation; D054392:Adipokines
D004247:DNA; D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines