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 Identification of novel mutations in glucocerebrosidase (GBA) gene in Indian patients with gaucher disease (GD)

2014 ◽  
Vol 7 (Suppl 1) ◽  
pp. P52 ◽  
Author(s):  
Chitra Ankleshwaria ◽  
Jayesh Sheth ◽  
Mehul Mistri ◽  
Ashish Bavdekar ◽  
Sheela Nampoothiri ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutations ◽  
Indian Patients ◽  
Gba Gene

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

scholarly journals Targeted next generation sequencing identifies novel mutations in Indian patients with retinal dystrophies

2017 ◽  
Vol 1 (Special Issue) ◽  
pp. 91-91
Author(s):  
Rajeshwari Patil ◽  
Poornachandra Poornachandra ◽  
Nallathambi Jeyabalan ◽  
Arkasubhra Ghosh ◽  
Anuprita Ghosh
Keyword(s):  
Next Generation Sequencing ◽  
Next Generation ◽  
Novel Mutations ◽  
Targeted Next Generation Sequencing ◽  
Retinal Dystrophies ◽  
Indian Patients ◽  
Generation Sequencing

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

scholarly journals Erratum to: Glutaric Acidemia Type 1-Clinico-Molecular Profile and Novel Mutations in GCDH Gene in Indian Patients

2014 ◽  
pp. 129-129
Author(s):  
Neerja Gupta ◽  
Pawan Kumar Singh ◽  
Manoj Kumar ◽  
Shivaram Shastri ◽  
Sheffali Gulati ◽  
...  
Keyword(s):  
Molecular Profile ◽  
Novel Mutations ◽  
Indian Patients

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
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