Abstract
We found a novel acceptor splice site mutation in the invariant AG of intron 6 of alpha-galactosidase A (alpha-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 resulting in premature termination. This mutation gives rise to a rare aberrant splicing (Simultaneous 3' destruction and 3' creation).
Original language | English |
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Number of pages | 1 |
Journal | Human mutation |
Volume | 11 |
Issue number | 6 |
Publication status | Published - 1998 Jan 1 |
Externally published | Yes |
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)