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