A new missense mutation of fibrillin in a patient with Marfan syndrome.
A patient with Marfan syndrome was shown to be heterozygous for a G to A transition at nucleotide 3952 of the FBNI gene. This would result in a cysteine to tyrosine substitution at amino acid 1223 in the fibrillin protein.
Hewett
D R
DR
Collagen Genetics Group, University of Oxford, John Radcliffe Hospital, Headington, UK.
Lynch
J R
JR
Child
A
A
Sykes
B C
BC
D000368:Aged; D000595:Amino Acid Sequence; D001483:Base Sequence; D005260:Female; D000071837:Fibrillins; D006801:Humans; D008382:Marfan Syndrome / Q000235:genetics*; D008840:Microfilament Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation
D000071837:Fibrillins; D008840:Microfilament Proteins