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

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...

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Main Authors: Paw, B H, Tieu, P T, Kaback, M M, Lim, J, Neufeld, E F
Format: Artigo
Sprog:Inglês
Udgivet: 1990
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683802/
https://ncbi.nlm.nih.gov/pubmed/2220809
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