Mutations of the hexosaminidase A gene in Ashkenazi and non-Ashkenazi Jews.

doi:10.1006/bmmb.1994.1029

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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 inse...

Topics

Alleles
DNA
Exons
False Negative Reactions
Heterozygote
Hexosaminidase A
Humans
Introns
Israel
Jews
Mutation
beta-N-Acetylhexosaminidases

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