Associated Papers
Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum.
Ibrahim DMA et al.
Orphanet Journal of Rare Diseases, 2023
Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population.
Mehta N et al.
Genetic Testing and Molecular Biomarkers, 2016
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants
Next-generation DNA sequencing of HEXA: a step in the right direction for carrier screening.
Hoffman JD et al.
Molecular Genetics & Genomic Medicine, 2013
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