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Case Reports
. 1994 Apr;31(4):338-9.
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, A Child, B C Sykes
Affiliations
Case Reports

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

D R Hewett et al. J Med Genet. 1994 Apr.

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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References

    1. Trends Biochem Sci. 1991 Jan;16(1):13-7 - PubMed
    1. Annu Rev Genet. 1990;24:133-70 - PubMed
    1. Nature. 1991 Jul 25;352(6333):334-7 - PubMed
    1. Nature. 1991 Jul 25;352(6333):337-9 - PubMed
    1. Blood. 1991 Oct 1;78(7):1637-51 - PubMed

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