Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.

Masaaki Shimotori, Hiroki Maruyama, Gen Nakamura, Takayuki Suyama, Fumiko Sakamoto, Masaaki Itoh, Shigeaki Miyabayashi, Takahiro Ohnishi, Norio Sakai, Mari Wataya-Kaneda, Mitsuru Kubota, Toshiyuki Takahashi, Tatsuhiko Mori, Katsuhiko Tamura, Shinji Kageyama, Nobuo Shio, Teruhiko Maeba, Hirokazu Yahagi, Motoko Tanaka, Masayo OkaHitoshi Sugiyama, Toshiyuki Sugawara, Noriko Mori, Hiroko Tsukamoto, Keiichi Tamagaki, Shuuji Tanda, Yuka Suzuki, Chiya Shinonaga, Jun ichi Miyazaki, Satoshi Ishii, Fumitake Gejyo

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Medicine & Life Sciences