Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.

doi:10.1002/(SICI)1096-8628(19961028)65:3<184::AID-AJMG3>3.0.CO;2-Q

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Article

Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells.

American journal of medical genetics - 28 Oct 1996

Choy F Y, Wei C, Levin D

Abstract excerpt

Gaucher disease is an inherited sphingolipidosis resulting from deficient glucocerebrosidase activity. Three clinical forms of Gaucher disease have been described: type 1 as non-neuronopathic, type 2 as acute neuronopathic, and type 3 as subacute neuronopathic. We recently identified a rare mutat...

Topics

Adult
Alleles
Animals
Baculoviridae
Gaucher Disease
Genetic Vectors
Glucosylceramidase
Humans
Male
Middle Aged
Mutation
Spodoptera
Transfection

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