Associated Papers
In-silico screening and microsecond molecular dynamics simulations to identify single point mutations that destabilize β-hexosaminidase A causing Tay-Sachs disease.
Almanasra A et al.
Proteins, 2021
Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India.
Mistri M et al.
Journal of Human Genetics, 2019
Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India.
Sheth J et al.
Bmc Medical Genetics, 2018
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
Sheth J et al.
Jimd Reports, 2014
Select a paper to view details