Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

Ítems similars

• Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.
  per: Eng, C M, et al.
  Publicat: (1993)
• Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.
  per: Germain, Dominique P., et al.
  Publicat: (2002)
• Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
  per: Bernstein, H S, et al.
  Publicat: (1989)
• Fabry disease: Identification of 50 novel α-galactosidase A mutations causing the classic phenotype and three-dimensional structural analysis of 29 missense mutations
  per: Shabbeer, Junaid, et al.
  Publicat: (2006)
• Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
  per: Eng, C. M., et al.
  Publicat: (1997)