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A new missense mutation of fibrillin in a patient with Marfan syndrome.
Hewett D.R., Lynch J.R., Child A., Sykes B.C.
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.