Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.

Lignende værker

• Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.
  af: Germain, Dominique P., et al.
  Udgivet: (2002)
• Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
  af: Topaloglu, A. K., et al.
  Udgivet: (1999)
• Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.
  af: Sakuraba, H, et al.
  Udgivet: (1990)
• Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
  af: Eng, C M, et al.
  Udgivet: (1993)
• Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
  af: Bernstein, H S, et al.
  Udgivet: (1989)