Associated Papers
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
32595206 (PubMed )
Supplement: 41436_2020_869_MOESM2_ESM.xlsx › HEXA
Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility.
Sheth J et al.
Jimd Reports, 2014
Molecular study of lysosomal storage disorders in India.
Sheth J
Molecular Cytogenetics, 2014
Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India.
Mistri M et al.
Plos One, 2012
Tay-Sachs disease in Brazilian patients: prevalence of the IVS7+1g>c mutation.
Rozenberg R et al.
Journal of Inherited Metabolic Disease, 2004
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