Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.
Shimotori M, Maruyama H, Nakamura G, Suyama T, Sakamoto F, Itoh M, Miyabayashi S, Ohnishi T, Sakai N, Wataya-Kaneda M, Kubota M, Takahashi T, Mori T, Tamura K, Kageyama S, Shio N, Maeba T, Yahagi H, Tanaka M, Oka M, Sugiyama H, Sugawara T, Mori N, Tsukamoto H, Tamagaki K, Tanda S, Suzuki Y, Shinonaga C, Miyazaki J, Ishii S, Gejyo F.
Shimotori M, et al. Among authors: yahagi h.
Hum Mutat. 2008 Feb;29(2):331. doi: 10.1002/humu.9520.
Hum Mutat. 2008.
PMID: 18205205