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.

T. Matsumura, H. Osaka, N. Sugiyama, C. Kawanishi, Y. Maruyama, K. Suzuki, H. Onishi, Y. Yamada, M. Morita, Masashi Aoki, K. Kosaka

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6 Citations (Scopus)

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 languageEnglish
Number of pages1
JournalHuman mutation
Volume11
Issue number6
Publication statusPublished - 1998 Jan 1
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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