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. 1994 Apr;31(4):338–339. doi: 10.1136/jmg.31.4.338

A new missense mutation of fibrillin in a patient with Marfan syndrome.

D R Hewett 1, J R Lynch 1, A Child 1, B C Sykes 1
PMCID: PMC1049811  PMID: 8071963

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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Selected References

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