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

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

Research output: Contribution to journal › Article › peer-review

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 language	English
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)

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

In: Human mutation, Vol. 11, No. 6, 01.01.1998.

Research output: Contribution to journal › Article › peer-review

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AU - Maruyama, Y.

AU - Suzuki, K.

AU - Onishi, H.

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