scholarly journals Novel Mutations in the Glucocerebrosidase Gene of Brazilian Patients with Gaucher Disease

2012 ◽  
pp. 7-16 ◽  
Author(s):  
Marina Siebert ◽  
Hugo Bock ◽  
Kristiane Michelin-Tirelli ◽  
Janice C. Coelho ◽  
Roberto Giugliani ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutations ◽  
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 Erratum: Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease

2015 ◽  
Vol 60 (5) ◽  
pp. 285-285 ◽  
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

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

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

Molecular characteristics in Japanese patients with lipidosis: Novel mutations in metachromatic leukodystrophy and Gaucher disease

1993 ◽  
Vol 119 (1-2) ◽  
pp. 179-184 ◽  
Author(s):  
Yoshikatsu Eto ◽  
Hiroshi Kawame ◽  
Yoriyasu Hasegawa ◽  
Toya Ohashi ◽  
Hiroyuki Ida ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Metachromatic Leukodystrophy ◽  
Japanese Patients ◽  
Molecular Characteristics ◽  
Novel Mutations
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