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
New point mutation (R301X) of the α-galactosidase a gene causing fabry disease
✍ Scribed by Chiaki Kawanishi; Hitoshi Osaka; Ken Inoue; Hideki Onishi; Yoshiteru Yamada; Naoya Sugiyama; Kyoko Suzuki; Tokiji Hanihara; Tomohiro Miyagawa; Seiji Kimura; Susumu Kawamoto; Kenji Okuda; Kenji Kosaka
- Publisher
- John Wiley and Sons
- Year
- 1995
- Tongue
- English
- Weight
- 160 KB
- Volume
- 6
- Category
- Article
- ISSN
- 1059-7794
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