scholarly journals Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Jayesh Sheth ◽  
Riddhi Bhavsar ◽  
Mehul Mistri ◽  
Dhairya Pancholi ◽  
Ashish Bavdekar ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Gaucher Disease ◽  
Single Gene ◽  
Indian Patients ◽  
Novel Variants ◽  
Prevalent Mutation

Clinical and molecular characterization of Indian patients with fructose-1, 6-bisphosphatase deficiency: Identification of a frequent variant (E281K)

2018 ◽  
Vol 82 (5) ◽  
pp. 309-317 ◽  
Author(s):  
Pratibha Bhai ◽  
Sunita Bijarnia-Mahay ◽  
Ratna D. Puri ◽  
Renu Saxena ◽  
Deepti Gupta ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Indian Patients ◽  
Frequent Variant ◽  
Bisphosphatase Deficiency

Molecular Characterization of Younger Indian Patients with De Novo Myelodysplastic Syndromes: AIIMS Experience

2017 ◽  
Vol 55 ◽  
pp. S138
Author(s):  
R. Chaubey ◽  
S. Sazawal ◽  
M. Mahapatra ◽  
S. Chhikara ◽  
R. Saxena
Keyword(s):  
Molecular Characterization ◽  
Myelodysplastic Syndromes ◽  
De Novo ◽  
Indian Patients

Molecular characterization of leukocyte adhesion deficiency-I in Indian patients: Identification of 9 novel mutations

2015 ◽  
Vol 54 (3) ◽  
pp. 217-223 ◽  
Author(s):  
Manisha Madkaikar ◽  
Khushnooma Italia ◽  
Maya Gupta ◽  
Sushant Chavan ◽  
Anju Mishra ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Leukocyte Adhesion ◽  
Leukocyte Adhesion Deficiency ◽  
Novel Mutations ◽  
Indian Patients

Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients

2007 ◽  
Vol 39 (3) ◽  
pp. 348-352 ◽  
Author(s):  
P. Suwannarat ◽  
S. Keeratichamroen ◽  
D. Wattanasirichaigoon ◽  
L. Ngiwsara ◽  
J.R.K. Cairns ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Gaucher Disease ◽  
Type 3

scholarly journals Molecular Characterization of the GBA Gene in Patients from Southwest of Colombia with Gaucher Disease

2021 ◽  
Vol 9 ◽  
Author(s):  
Daniela Arturo Terranova ◽  
Lina Johanna Moreno Giraldo ◽  
Henry Idrobo ◽  
José María Satizabal
Keyword(s):  
Molecular Characterization ◽  
Gaucher Disease ◽  
Gba Gene

P-032 Molecular characterization of Indian patients with myelodysplastic syndromes

2013 ◽  
Vol 37 ◽  
pp. S37
Author(s):  
R. Chaubey ◽  
S. Sazawal ◽  
S. Chikkara ◽  
M. Mahapatra ◽  
R. Saxena
Keyword(s):  
Molecular Characterization ◽  
Myelodysplastic Syndromes ◽  
Indian Patients

Molecular characterization of Mycobacterium tuberculosis isolates from North Indian patients with extrapulmonary tuberculosis

Tuberculosis ◽  
2013 ◽  
Vol 93 (1) ◽  
pp. 75-83 ◽  
Author(s):  
Manimuthu Mani Sankar ◽  
Jitendra Singh ◽  
Selvaraj Cynthiya Angelin Diana ◽  
Sarman Singh
Keyword(s):  
Mycobacterium Tuberculosis ◽  
Molecular Characterization ◽  
Extrapulmonary Tuberculosis ◽  
Indian Patients
Sign in / Sign up

Export Citation Format

Share Document