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
Three novel mutations in Iranian patients with Tay-Sachs disease.
Jamali S et al.
Iranian Biomedical Journal, 2014
Rapid identification of HEXA mutations in Tay-Sachs patients.
Giraud C et al.
Biochemical and Biophysical Research Communications, 2010
An A-to-G mutation at the +3 position of intron 8 of the HEXA gene is associated with exon 8 skipping and Tay-Sachs disease.
Richard MM et al.
Biochemical and Molecular Medicine, 1995
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