Mutation analysis in 11 French patients with Fabry disease

This publication has 7 references indexed in Scilit:

• Fabry Disease: Fourteen α-Galactosidase A Mutations in Unrelated Families from the United Kingdom and Other European Countries
  Published by Springer Nature ,1996
• An Atypical Variant of Fabry's Disease in Men with Left Ventricular Hypertrophy
  New England Journal of Medicine, 1995
• Mutation analysis in patients with the typical form of Anderson — Fabry disease
  Human Molecular Genetics, 1993
• Point mutations in the upstream region of the ?-galactosidase A gene exon 6 in an atypical variant of Fabry disease
  Human Genetics, 1992
• A 3′ splice site consensus sequence mutation in the intron 3 of the α-galactosidase a gene in a patient with Fabry disease
  Journal of Human Genetics, 1991
• A case of Fabry's disease in a patient with no α‐galactosidase A activity caused by a single amino acid substitution of Pro‐40 by Ser
  FEBS Letters, 1990
• Structural organization of the human alpha-galactosidase A gene: further evidence for the absence of a 3' untranslated region.
  Proceedings of the National Academy of Sciences, 1988