Alternative Splicing in the α-Galactosidase A Gene: Increased Exon Inclusion Results in the Fabry Cardiac Phenotype

This publication has 39 references indexed in Scilit:

• The RNA binding protein YB-1 binds A/C-rich exon enhancers and stimulates splicing of the CD44 alternative exon v4
  The EMBO Journal, 2001
• Splicing Defects in the Ataxia-Telangiectasia Gene, ATM: Underlying Mutations and Consequences
  American Journal of Human Genetics, 1999
• Fabry Disease: Identification of Novel Alpha-Galactosidase A Mutations and Molecular Carrier Detection by Use of Fluorescent Chemical Cleavage of Mismatches
  Biochemical and Biophysical Research Communications, 1999
• Human α-galactosidase gene expression: significance of two peptide regions encoded by exons 1–2 and 6
  Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology, 1994
• Characterization of a Mutant α-Galactosidase Gene Product for the Late-Onset Cardiac Form of Fabry Disease
  Biochemical and Biophysical Research Communications, 1993
• Quantitative analysis of dystrophin gene amplification products using a PC-based image analysis system
  International Journal of Bio-Medical Computing, 1993
• Invariant exon skipping in the human α-galactosidase A pre-mRNA: A g+1 to t substitution in a 5′-splice site causing Fabry disease
  Genomics, 1992
• Efficient selection for high-expression transfectants with a novel eukaryotic vector
  Gene, 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
• Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNA
  Cell, 1986