Article
Fabry disease: biochemical, pathological and structural studies of the α-galactosidase A with E66Q amino acid substitution.
Molecular genetics and metabolism - 1 Apr 2012
Togawa Tadayasu, Tsukimura Takahiro, Kodama Takashi, Tanaka Toshie, Kawashima Ikuo, Saito Seiji, Ohno Kazuki, Fukushige Tomoko, Kanekura Takuro, Satomura Atsushi, Kang Duk-Hee, Lee Beom Hee, Yoo Han-Wook, Doi Kent, Noiri Eisei, Sakuraba Hitoshi
Abstract excerpt
Recently, male subjects harboring the c.196G>C nucleotide change which leads to the E66Q enzyme having low α-galactosidase A (GLA) activity have been identified at an unexpectedly high frequency on Japanese and Korean screening for Fabry disease involving dry blood spots and plasma/serum samples. Individuals with the E66Q enzyme have been suspected to have the later-onset Fabry disease phenotype leading to renal...
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