2168 – A novel mutation of the alpha galactosidase gene linked with fabry disease and therapy-resistant depression
✍ Scribed by Weber, S.K.; Muehlbacher, M.; Egger, C.L.; Geretsegger, C.; Stuppaeck, C.
- Book ID
- 123445604
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- French
- Weight
- 31 KB
- Volume
- 28
- Category
- Article
- ISSN
- 0924-9338
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Fabry disease is an X-linked inborn error of sphingolipid catabolism resulting from deficient enzyme activity of a-galactosidase A. The molecular defects of human a-galactosidase A gene causing Fabry disease have been characterized, including gene rearrangement and point mutations, which show the ge
We found a novel acceptor splice site mutation in the invariant AG of intron 6 of a-galactosidase A (a-Gal A) gene (IVS6-1G->A) in a patient with Fabry disease by sequencing of genomic DNA. Sequencing of RT-PCR revealed the deletion of first base pair (c909del) of exon 7 in mRNA and a frameshift res