Article
Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation.
American journal of human genetics - 1 Jul 2003
Yasuda Makiko, Shabbeer Junaid, Osawa Makiko, Desnick Robert J
Abstract excerpt
Mutations in the gene that encodes the lysosomal exoglycohydrolase, alpha-galactosidase A (alpha-GalA), cause Fabry disease, an X-linked recessive inborn error of glycosphingolipid catabolism. Human alpha-GalA is one of the rare mammalian genes that has its polyadenylation signal in the coding sequence and lacks a 3' untranslated region (UTR). We identified two novel frameshift mutations, 1277delAA (del2) and...
Topics
- Amino Acid Sequence
- Animals
- Base Sequence
- Blotting, Northern
- COS Cells
- DNA
- Fabry Disease
- Humans
- Male
- Microscopy, Fluorescence
- Middle Aged
- Molecular Sequence Data
- Mutation
- RNA, Messenger
- Subcellular Fractions