Assignment of beta-hexosaminidase A alpha-subunit ...[Cytogenet Cell Genet. 1991]

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1: Cytogenet Cell Genet. 1991;56(3-4):164.Links

Assignment of beta-hexosaminidase A alpha-subunit to human chromosomal region 15q23----q24.

Nakai H, Byers MG, Nowak NJ, Shows TB.

Department of Human Genetics, Rosewell Park Memorial Institute, Buffalo, NY 14263.

Tay-Sachs disease results from a mutation in the alpha subunit of beta-hexosaminidase. Using a cDNA clone, we have mapped the gene to 15q23----q24 by in situ hybridization.

PMID: 1829032 [PubMed - indexed for MEDLINE]

Fine assignment of beta-hexosaminidase A alpha-subunit on 15q23-q24 by high resolution in situ hybridization. [Tohoku J Exp Med. 1990]
Introduction of the alpha subunit mutation associated with the B1 variant of Tay-Sachs disease into the beta subunit produces a beta-hexosaminidase B without catalytic activity. [J Biol Chem. 1989]
Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease. [J Biol Chem. 1986]
Normal transcription of the beta-hexosaminidase alpha-chain gene in the Ashkenazi Tay-Sachs mutation. [J Biol Chem. 1988]
Expression of human beta-hexosaminidase alpha-subunit gene (the gene defect of Tay-Sachs disease) in mouse brains upon engraftment of transduced progenitor cells. [Nat Med. 1996]
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Assignment of beta-hexosaminidase A alpha-subunit to human chromosomal region 15q23----q24.

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