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; M. Aoki; K. Kosaka

doi:10.1002/(sici)1098-1004(1998)11:6<483::aid-humu18>3.3.co;2-u

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, M. Aoki, K. Kosaka

MED - Medical Sciences

Yokohama City University

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

7 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
Pages (from-to)	483
Number of pages	1
Journal	Human Mutation
Volume	11
Issue number	6
DOIs	https://doi.org/10.1002/(sici)1098-1004(1998)11:6<483::aid-humu18>3.3.co;2-u
Publication status	Published - 1998

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10.1002/(sici)1098-1004(1998)11:6<483::aid-humu18>3.3.co;2-u

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Matsumura, T., Osaka, H., Sugiyama, N., Kawanishi, C., Maruyama, Y., Suzuki, K., Onishi, H., Yamada, Y., Morita, M., Aoki, M., & Kosaka, K. (1998). 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. Human Mutation, 11(6), 483. https://doi.org/10.1002/(sici)1098-1004(1998)11:6<483::aid-humu18>3.3.co;2-u

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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).",

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

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Matsumura, T, Osaka, H, Sugiyama, N, Kawanishi, C, Maruyama, Y, Suzuki, K, Onishi, H, Yamada, Y, Morita, M, Aoki, M & Kosaka, K 1998, '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.', Human Mutation, vol. 11, no. 6, pp. 483. https://doi.org/10.1002/(sici)1098-1004(1998)11:6<483::aid-humu18>3.3.co;2-u

TY - JOUR

T1 - 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.

AU - Matsumura, T.

AU - Osaka, H.

AU - Sugiyama, N.

AU - Kawanishi, C.

AU - Maruyama, Y.

AU - Suzuki, K.

AU - Onishi, H.

AU - Yamada, Y.

AU - Morita, M.

AU - Aoki, M.

AU - Kosaka, K.

PY - 1998

Y1 - 1998

N2 - 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).

AB - 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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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.

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