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
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
Ou L et al.
Molecular Genetics and Metabolism Reports, 2019
Tay-Sachs disease carrier screening: a model for prevention of genetic disease.
Kaplan F
Genetic Testing, 1998
Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease.
Tomczak J et al.
Human Mutation, 1994
Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors.
Sheth J et al.
Annals of Indian Academy of Neurology, 0
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