Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

Antzeko izenburuak

• Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
  nork: Topaloglu, A. K., et al.
  Argitaratua: (1999)
• Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
  nork: Bernstein, H S, et al.
  Argitaratua: (1989)
• Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
  nork: Eng, C. M., et al.
  Argitaratua: (1997)
• Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
  nork: Sakuraba, H, et al.
  Argitaratua: (1990)
• Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.
  nork: Germain, Dominique P., et al.
  Argitaratua: (2002)