Article
Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.
Human mutation - 1 Feb 2008
Shimotori Masaaki, Maruyama Hiroki, Nakamura Gen, Suyama Takayuki, Sakamoto Fumiko, Itoh Masaaki, Miyabayashi Shigeaki, Ohnishi Takahiro, Sakai Norio, Wataya-Kaneda Mari, Kubota Mitsuru, Takahashi Toshiyuki, Mori Tatsuhiko, Tamura Katsuhiko, Kageyama Shinji, Shio Nobuo, Maeba Teruhiko, Yahagi Hirokazu, Tanaka Motoko, Oka Masayo, Sugiyama Hitoshi, Sugawara Toshiyuki, Mori Noriko, Tsukamoto Hiroko, Tamagaki Keiichi, Tanda Shuuji, Suzuki Yuka, Shinonaga Chiya, Miyazaki Jun-ichi, Ishii Satoshi, Gejyo Fumitake
Abstract excerpt
Fabry disease is an X-linked recessive inborn metabolic disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (EC 3.2.1.22). The causative mutations are diverse, include both large rearrangements and single-base substitutions, and are dispersed throughout the 7 exons of th...
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