(Q77313554)
Statements
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 (English)
Matsumura T
Osaka H
Sugiyama N
Kawanishi C
Maruyama Y
Suzuki K
Onishi H
Yamada Y
Morita M
Aoki M