01/01/1998 - "[Tay-Sachs disease (beta-hexosaminidase alpha-chain deficiency)]."
01/25/1995 - "A single nucleotide transversion (G-->C) in the 5' donor site of intron 7 of the beta-hexosaminidase alpha-chain gene was identified in two Portuguese patients with infantile Tay-Sachs disease. "
04/01/1990 - "A simple, rapid, nonradioactive assay for detecting the 4-bp insertion defect found in the beta-hexosaminidase alpha-chain gene of 70% of the Ashkenazi Jewish carriers of Tay-Sachs disease is described. "
12/05/1988 - "Multiple abnormal beta-hexosaminidase alpha chain mRNAs in a compound-heterozygous Ashkenazi Jewish patient with Tay-Sachs disease."
05/31/1988 - "Abnormal beta-hexosaminidase alpha chain mRNAs from an Ashkenazi Jewish patient with the classical infantile Tay-Sachs disease contained intact or truncated intron 12 sequences. "
|2.||Congenital Disorders of Glycosylation
|3.||Sandhoff Disease (Sandhoff's Disease)
|1.||Complementary DNA (cDNA)