The E326K mutation and Gaucher disease: mutation or polymorphism?

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Author(s):  
JK Park ◽  
N Tayebi ◽  
BK Stubblefield ◽  
ME LaMarca ◽  
JJ MacKenzie ◽  
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N-Glycosylation and Gaucher Disease Mutation Allosterically Alter Active-Site Dynamics of Acid-β-Glucosidase

ACS Catalysis ◽  
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Author(s):  
Michael Gregory Souffrant ◽  
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Donald Hamelberg
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Gaucher Disease ◽  
Disease Mutation

Consanguinity and founder effect for Gaucher disease mutation G377S in a population from Tabuleiro do Norte, Northeastern Brazil

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Vol 88 (4) ◽  
pp. 391-395 ◽  
Author(s):  
R.G. Chaves ◽  
L. da Veiga Pereira ◽  
F.T. de Araújo ◽  
R. Rozenberg ◽  
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Gaucher Disease ◽  
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Disease Mutation

scholarly journals Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)

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Vol 29 (5) ◽  
pp. 567-583 ◽  
Author(s):  
Kathleen S. Hruska ◽  
Mary E. LaMarca ◽  
C. Ronald Scott ◽  
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Gaucher Disease ◽  
Disease Mutation ◽  
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Vol 95 (3) ◽  
pp. 312-317 ◽  
Author(s):  
Anders Erikson ◽  
Håkan Forsberg ◽  
Magnus Nilsson ◽  
Marianne Åström ◽  
Jan-Eric Månsson
Keyword(s):  
Gaucher Disease ◽  
Infusion Therapy ◽  
Type 3 ◽  
Enzyme Infusion
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