Abstract
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.
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CITATION STYLE
APA
Hewett, D. R., Lynch, J. R., Child, A., & Sykes, B. C. (1994). A new missense mutation of fibrillin in a patient with Marfan syndrome. Journal of Medical Genetics, 31(4), 338–339. https://doi.org/10.1136/jmg.31.4.338
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