Article
Mutations of the hexosaminidase A gene in Ashkenazi and non-Ashkenazi Jews.
Biochemical medicine and metabolic biology - 1 Jun 1994
Peleg L, Karpati M, Gazit E, Raas-Rothschild A, Goldman B
Abstract excerpt
Tay-Sachs disease (TSD) is caused by mutations in the gene encoding the alpha-subunit of beta-hexosaminidase A (HexA). This disease is more prevalent in certain ethnic groups such as Jews of Ashkenazi origin. Three mutations are most commonly found among the latter population: a 4-nucleotide insertion in exon 11, a transversion at the splice site in intron 12, and the adult onset mutation in exon 7. The frequency...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.