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

2008 ◽  
Vol 29 (5) ◽  
pp. 567-583 ◽  
Author(s):  
Kathleen S. Hruska ◽  
Mary E. LaMarca ◽  
C. Ronald Scott ◽  
Ellen Sidransky
Keyword(s):  
Gaucher Disease ◽  
Disease Mutation ◽  
Glucocerebrosidase Gene

Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease

2014 ◽  
Vol 59 (4) ◽  
pp. 223-228 ◽  
Author(s):  
Chitra Ankleshwaria ◽  
Mehul Mistri ◽  
Ashish Bavdekar ◽  
Mamta Muranjan ◽  
Usha Dave ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutations ◽  
Indian Patients ◽  
Glucocerebrosidase Gene

scholarly journals Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene

2017 ◽  
Vol 173 (12) ◽  
pp. 3211-3215 ◽  
Author(s):  
Ermias Hagege ◽  
Richard J. Grey ◽  
Grisel Lopez ◽  
Tamanna Roshan Lal ◽  
Ellen Sidransky ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Glucocerebrosidase Gene

N-Glycosylation and Gaucher Disease Mutation Allosterically Alter Active-Site Dynamics of Acid-β-Glucosidase

ACS Catalysis ◽  
2020 ◽  
Vol 10 (3) ◽  
pp. 1810-1820 ◽  
Author(s):  
Michael Gregory Souffrant ◽  
Xin-Qiu Yao ◽  
Mohamed Momin ◽  
Donald Hamelberg
Keyword(s):  
Active Site ◽  
Gaucher Disease ◽  
Disease Mutation

scholarly journals A Prenatal Lethal Form of Type 2 Gaucher Disease Resulting from a Novel Frameshift Mutation in the Glucocerebrosidase Gene. † 632

1997 ◽  
Vol 41 ◽  
pp. 108-108
Author(s):  
Nahid Tayebi ◽  
Wim J. Kleijer ◽  
Kathryn Reissner ◽  
Jan Den Hollander ◽  
Shana Cushner ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Frameshift Mutation ◽  
Glucocerebrosidase Gene

Characterization of the c.(-203)A>G variant in the glucocerebrosidase gene and its association with phenotype in Gaucher disease

2011 ◽  
Vol 412 (3-4) ◽  
pp. 365-369 ◽  
Author(s):  
Pilar Alfonso ◽  
Sandra Pampín ◽  
Beatriz García-Rodríguez ◽  
Teresa Tejedor ◽  
Carmen Domínguez ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Glucocerebrosidase Gene

The E326K mutation and Gaucher disease: mutation or polymorphism?

2002 ◽  
Vol 61 (1) ◽  
pp. 32-34 ◽  
Author(s):  
JK Park ◽  
N Tayebi ◽  
BK Stubblefield ◽  
ME LaMarca ◽  
JJ MacKenzie ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Mutation

Retroviral Transfer of the Glucocerebrosidase Gene into CD34+ Cells from Patients with Gaucher Disease: In Vivo Detection of Transduced Cells without Myeloablation

1998 ◽  
Vol 9 (17) ◽  
pp. 2629-2640 ◽  
Author(s):  
Cynthia E. Dunbar ◽  
Donald B. Kohn ◽  
Raphael Schiffmann ◽  
Norman W. Barton ◽  
Jan A. Nolta ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
In Vivo Detection ◽  
Cd34 Cells ◽  
Glucocerebrosidase Gene ◽  
Retroviral Transfer
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