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A nonsense mutation (R220X) in the {alpha}-galactosidase A gene detected in a female carrier of Fabry disease

Cathy Meaney, Lianne C. Blanch, and C.Phillip Morris

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Article topics:

  • Developmental Biology..Fabry Disease
  • Medicine..Genes
  • Medicine..Genetics (Etiological)
  • Medicine..Cardiovascular Genetics
  • Biochemistry..Codon
  • Medicine..Genetics
  • Medicine..Polymorphism
  • Biochemistry..Polymerase Chain Reaction
  • Religious Studies..Death
  • Physiology..Leukocytes
  • Medicine..Cornea
  • Medicine..Kidney Failure

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 J. Med. Genet.Home page
A Morrone, C Cavicchi, T Bardelli, D Antuzzi, R Parini, M Di Rocco, S Feriozzi, O Gabrielli, R Barone, G Pistone, et al.
Fabry disease: molecular studies in Italian patients and X inactivation analysis in manifesting carriers
J. Med. Genet., August 1, 2003; 40(8): e103 - 103.
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