New point mutation (R301X) of the α-galactosidase a gene causing fabry disease
- 1 January 1995
- journal article
- Published by Hindawi Limited in Human Mutation
- Vol. 6 (2) , 186-187
- https://doi.org/10.1002/humu.1380060214
Abstract
No abstract availableThis publication has 13 references indexed in Scilit:
- Molecular basis of fabry disease: Mutations and polymorphisms in the human α-galactosidase A geneHuman Mutation, 1994
- Point mutations in the upstream region of the ?-galactosidase A gene exon 6 in an atypical variant of Fabry diseaseHuman Genetics, 1992
- Partial deletion of human α-galactosidase a gene in Fabry disease: Direct repeat sequences as a possible cause of slipped mispairingBiochemical and Biophysical Research Communications, 1990
- 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
- Fabry disease: six gene rearrangements and an exonic point mutation in the alpha-galactosidase gene.Journal of Clinical Investigation, 1989
- Nucleotide sequence of the human α-galactosidase A geneNucleic Acids Research, 1989
- 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
- Primer-directed enzymatic amplification of DNA with a thermostable DNA polymeraseScience, 1988
- Human alpha-galactosidase A: nucleotide sequence of a cDNA clone encoding the mature enzyme.Proceedings of the National Academy of Sciences, 1986
- DNA sequencing with chain-terminating inhibitorsProceedings of the National Academy of Sciences, 1977