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Article

Frequency of three Hex A mutant alleles among Jewish and non-Jewish carriers identified in a Tay-Sachs screening program.

American journal of human genetics - 1 Oct 1990

Paw B H, Tieu P T, Kaback M M, Lim J, Neufeld E F

Abstract excerpt

Mutations in the HEX A gene, encoding the alpha-subunit of beta-hexosaminidase A (Hex A), are the cause of Tay-Sachs disease as well as of juvenile, chronic, and adult GM2 gangliosidoses. We have examined the distribution of three mutations--a 4-nucleotide insertion in exon 11, a G----C transversion at a 5' splice site in intron 12, and a 269Gly----Ser amino acid substitution in exon 7--among individuals...

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Identifiers

PMID: 2220809
PMCID: PMC1683802

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