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4. Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease. Kase R, Bierfreund U, Klein A, Kolter T, Utsumi K, Itoha K, Sandhoff K, Sakuraba H. Biochim Biophys Acta; 2000 Jun 15; 1501(2-3):227-35. PubMed ID: 10838196 [Abstract] [Full Text] [Related]