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- W2072907307 abstract "Transgenic mice expressing a human mutant α‐galactosidase with an R301Q substitution, which was found in a patient with a variant form of Fabry disease, were established. The mice transcribed a sufficient amount of α‐galactosidase mRNA, but the steady‐state levels of the enzyme protein were decreased in liver, kidney and heart, only residual activity being detected in these tissues. The mice will be useful for the clarification of the defective regulation of the structurally altered enzyme protein expressed by the mutant gene at the organ or individual level as well as for the evaluation of drugs that stabilize and/or activate the mutant α‐galactosidase." @default.
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- W2072907307 date "1997-11-03" @default.
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- W2072907307 title "Generation and characterization of transgenic mice expressing a human mutant α-galactosidase with an R301Q substitution causing a variant form of Fabry disease" @default.
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- W2072907307 doi "https://doi.org/10.1016/s0014-5793(97)01263-5" @default.
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