International Center for Fabry Disease


Molecular Genetic Research

  1. Kornreich R, Desnick RJ: Fabry disease: Detection of gene rearrangements in the human a-galactosidase A gene by multiplex PCR amplification. Hum Mutation 2:108, 1993.
  2. Ishii S, Sakuraba H, Suzuki Y: Point mutations in the upstream region of the a-galactosidase A gene exon 6 in an atypical variant of Fabry disease. Hum Genet 89:29, 1992.
  3. Ioannou YA, Bishop DF, Desnick RJ: Overexpression of human a-galactosidase A results in its intracellular aggregation, crystallization in lysosomes, and selective secretion. J Cell Biol 119: 1137, 1992.
  4. Sakuraba H, Eng CM, Desnick RJ, Bishop DF: Invariant exon skipping in the human a-Galactosidase A pre-mRNA: A g+1 to t substitution in a 5a-splice site causing Fabry disease. Genomics 12:643, 1992.
  5. Kornreich R, Astrin KH, Desnick RJ: Amplification of human polymorphic sites in the X-chromosome region q21.33 to q24: DXS17, DXS87, DXS287, and a-galactosidase A. Genomics 13:70, 1992.
  6. Wang AM, Desnick RJ: Structural organization and complete sequence of the human a-N-acetylgalactosaminidase gene. Homology with the a-galactosidase A gene provides evidence for evolution from a common ancestral gene. Genomics 10:133, 1991.
  7. Ishii S, Sakuraba H, Shimmoto M, Minamikawa-Tachino R, Suzuki T, Suzuki Y: Fabry disease: Detection of a 13-bp deletion in a-galactosidase A gene and its application to gene diagnosis of heterozygotes. Ann Neurol 29:560, 1991.
  8. Kirkilionis AJ, Riddell DC, Spence MW, Fenwick RG: Fabry disease in a large Nova Scotia kindred: carrier detection using leucocyte a-galactosidase activity and an NcoI polymorphism detected by an a-galactosidase cDNA clone. J Med Genet 28:232, 1991.