Alternative Splicing in the α-Galactosidase A Gene: Increased Exon Inclusion Results in the Fabry Cardiac Phenotype
- 1 April 2002
- journal article
- Published by Elsevier BV in American Journal of Human Genetics
- Vol. 70 (4), 994-1002
- https://doi.org/10.1086/339431
Abstract
No abstract availableKeywords
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 v4The EMBO Journal, 2001
- Splicing Defects in the Ataxia-Telangiectasia Gene, ATM: Underlying Mutations and ConsequencesAmerican 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 MismatchesBiochemical and Biophysical Research Communications, 1999
- Human α-galactosidase gene expression: significance of two peptide regions encoded by exons 1–2 and 6Biochimica 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 DiseaseBiochemical and Biophysical Research Communications, 1993
- Quantitative analysis of dystrophin gene amplification products using a PC-based image analysis systemInternational 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 diseaseGenomics, 1992
- Efficient selection for high-expression transfectants with a novel eukaryotic vectorGene, 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 SerFEBS Letters, 1990
- Sequence requirements for splicing of higher eukaryotic nuclear pre-mRNACell, 1986