Identification of point mutations in the alpha-galactosidase A gene in classical and atypical hemizygotes with Fabry disease.

פריטים דומים

• Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.
  מאת: Bernstein, H S, et al.
  יצא לאור: (1989)
• Human beta-galactosidase gene mutations in morquio B disease.
  מאת: Oshima, A, et al.
  יצא לאור: (1991)
• Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
  מאת: Eng, C. M., et al.
  יצא לאור: (1997)
• Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes.
  מאת: Germain, Dominique P., et al.
  יצא לאור: (2002)
• Human beta-galactosidase gene mutations in GM1-gangliosidosis: a common mutation among Japanese adult/chronic cases.
  מאת: Yoshida, K, et al.
  יצא לאור: (1991)