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

Characterization of 11 New Cases of Leukocyte Adhesion Deficiency Type 1 with Seven Novel Mutations in the ITGB2 Gene

2010 ◽  
Vol 30 (5) ◽  
pp. 756-760 ◽  
Author(s):  
Nima Parvaneh ◽  
Setareh Mamishi ◽  
Amir Rezaei ◽  
Nima Rezaei ◽  
Banafshe Tamizifar ◽  
...  
Keyword(s):  
Leukocyte Adhesion ◽  
Leukocyte Adhesion Deficiency ◽  
Novel Mutations ◽  
Deficiency Type

scholarly journals Leukocyte adhesion deficiency-I variant syndrome (LAD-Iv, LAD-III): Molecular characterization of the defect in an index family

2011 ◽  
Vol 87 (3) ◽  
pp. 311-313 ◽  
Author(s):  
Estelle S. Harris ◽  
Tammy L. Smith ◽  
Gregory M. Springett ◽  
Andrew S. Weyrich ◽  
Guy A. Zimmerman
Keyword(s):  
Molecular Characterization ◽  
Leukocyte Adhesion ◽  
Leukocyte Adhesion Deficiency ◽  
Index Family

Molecular characterization of leukocyte adhesion deficiency in six patients

1995 ◽  
Vol 25 (3) ◽  
pp. 717-722 ◽  
Author(s):  
Ann H. Wright ◽  
Wendy A. Douglass ◽  
G. Malcolm Taylor ◽  
Yu-Lung Lau ◽  
David Higgins ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Leukocyte Adhesion ◽  
Leukocyte Adhesion Deficiency

Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of theEP300gene

2014 ◽  
Vol 87 (2) ◽  
pp. 148-154 ◽  
Author(s):  
G. Negri ◽  
D. Milani ◽  
P. Colapietro ◽  
F. Forzano ◽  
M. Della Monica ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Novel Mutations

scholarly journals Phenotypic and Molecular Characterization of Optochin-Resistant Streptococcus pneumoniae Isolates from Brazil, with Description of Five Novel Mutations in the atpC Gene

2013 ◽  
Vol 51 (10) ◽  
pp. 3242-3249 ◽  
Author(s):  
T. C. A. Pinto ◽  
A. R. V. Souza ◽  
S. E. C. M. de Pina ◽  
N. S. Costa ◽  
A. A. Borges Neto ◽  
...  
Keyword(s):  
Streptococcus Pneumoniae ◽  
Molecular Characterization ◽  
Novel Mutations

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

Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder

2010 ◽  
Vol 33 (S3) ◽  
pp. 83-90 ◽  
Author(s):  
Sing-Chung Li ◽  
Chiao-Ming Chen ◽  
Jennifer L. Goldstein ◽  
Jer-Yuarn Wu ◽  
Emmanuelle Lemyre ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Glycogen Storage Disease ◽  
Storage Disease ◽  
Glycogen Storage Disease Type ◽  
Glycogen Storage ◽  
Disease Type ◽  
Novel Mutations ◽  
Type Iv

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
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