Characterization of two α-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1501, Issue 2-3, 2000, Pages 227-235

  Kase, Ryoichi ^a   Bierfreund, Uwe ^b   Klein, Andreas ^b   Kolter, Thomas ^b   Utsumi, Kouichi ^a   Itoh, Kohji ^a   Sandhoff, Konrad ^b   Sakuraba, Hitoshi ^a  

^a TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

^b UNIVERSITY OF BONN   (Germany)

Author keywords

Galactosidase; Atypical variant of Fabry disease

Indexed keywords

ALPHA GALACTOSIDASE; AMMONIUM CHLORIDE; LEUPEPTIN;

ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME KINETICS; ENZYME SUBSTRATE; FABRY DISEASE; FIBROBLAST; HUMAN; HUMAN CELL; LYMPHOBLAST; MALE; MUTANT; MUTATION; PRIORITY JOURNAL;

ALPHA-GALACTOSIDASE; AMMONIUM CHLORIDE; CELLS, CULTURED; ENZYME STABILITY; FABRY DISEASE; GALACTOSIDES; GLYCOPROTEINS; HUMANS; KINETICS; LIPOSOMES; MALE; MUTATION; PRECIPITIN TESTS; RECOMBINANT PROTEINS; SAPOSINS; SPHINGOLIPID ACTIVATOR PROTEINS; TRIHEXOSYLCERAMIDES; UMBELLIFERONES;

EID: 0034659627     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(00)00024-7     Document Type: Article

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