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  • Title: Novel acceptor splice site mutation in the invariant AG of intron 6 of alpha-galactosidase A gene, causing Fabry disease. Mutations in brief no. 146. Online.
    Author: Matsumura T, Osaka H, Sugiyama N, Kawanishi C, Maruyama Y, Suzuki K, Onishi H, Yamada Y, Morita M, Aoki M, Kosaka K.
    Journal: Hum Mutat; 1998; 11(6):483. PubMed ID: 10200059.
    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).
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