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Research Article
A new missense mutation of fibrillin in a patient with Marfan syndrome.
  1. D R Hewett,
  2. J R Lynch,
  3. A Child,
  4. B C Sykes
  1. Collagen Genetics Group, University of Oxford, John Radcliffe Hospital, Headington, UK.

    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.

    https://doi.org/10.1136/jmg.31.4.338

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