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

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

2014 ◽  
pp. 45-55 ◽  
Author(s):  
Neerja Gupta ◽  
Pawan Kumar Singh ◽  
Manoj Kumar ◽  
Shivaram Shastri ◽  
Sheffali Gulati ◽  
...  
Keyword(s):  
Molecular Profile ◽  
Novel Mutations ◽  
Indian Patients

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 Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1

PLoS ONE ◽  
2013 ◽  
Vol 8 (6) ◽  
pp. e65676 ◽  
Author(s):  
Jian Wang ◽  
Tingting Yu ◽  
Lei Yin ◽  
Jing Li ◽  
Li Yu ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Pseudohypoaldosteronism Type

scholarly journals Role of mica repeat polymorphism in the manifestation of type 1 diabetes mellitus in Bengali Indian patients

Genetika ◽  
2013 ◽  
Vol 45 (2) ◽  
pp. 611-619
Author(s):  
Oindrila Raha ◽  
B Sarkar ◽  
P. Veerraju ◽  
G. Sudhakar ◽  
P. Raychaudhuri ◽  
...  
Keyword(s):  
Indian Population ◽  
Healthy Controls ◽  
Related Gene ◽  
Repeat Polymorphism ◽  
Histocompatibility Complex ◽  
Indian Patients ◽  
Mica Gene ◽  
Polymorphic Gene

Background. The major histocompatibility complex class I chain-related gene A (MICA) (OMIM-600169) is a polymorphic gene in the HLA region expressed mainly by epithelial cells. The MICA protein encoded by the allele influences the activation of NK cells, which modify ?-cells destruction and has been found to be involved in susceptibility of T1DM. Objective. The aim of this study was to find the association of MICA alleles with T1DM among eastern Indian population. Subjects and methods.Study was conducted in 134 eastern Indian patients and with 137 healthy controls for the possible role of MICA gene in T1DM pathogenesis. Results. The MICA*A5 microsatellite allele, showed significantly higher frequencies in patients than controls (p=0.003, OR= 1.746, CI= 1.206-2.528). MICA A*6 was found to be protective in our study (p=<0.01, OR=0.406, CI= 0.268-0.616).

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

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

Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene

2020 ◽  
Vol 35 (6) ◽  
pp. 1009-1016 ◽  
Author(s):  
Marina V. Kurkina ◽  
Svetlana V. Mihaylova ◽  
Galina V. Baydakova ◽  
Elena V. Saifullina ◽  
Sergey A. Korostelev ◽  
...  
Keyword(s):  
Biochemical Study ◽  
Glutaric Aciduria Type ◽  
Novel Mutations ◽  
Glutaric Aciduria Type 1 ◽  
Glutaric Aciduria
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