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Novel acceptor splice site mutation in the invariant AG of intron 6 of α-galactosidase A gene, causing Fabry disease

Matsumura, Takehiko ; Osaka, Hitoshi ; Sugiyama, Naoya ; Kawanishi, Chiaki ; Maruyama, Yasuko ; Suzuki, Kyoko ; Onishi, Hideki ; Yamada, Yoshiteru ; Morita, Mitsuya ; Aoki, Masashi ; Kosaka, Kenji

Human mutation, 1998, Vol.11 (6), p.483-483 [Peer Reviewed Journal]

New York: Wiley Subscription Services, Inc., A Wiley Company

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