Acid sphingomyelinase gene

Details Acid sphingomyelinase gene Acid sphingomyelinase gene

1991-05-03

1998-06-30

Arthur, Lisa B.

Chemistry: molecular biology and microbiology

Animal cell, per se ; composition thereof; process of...

Rodent cell, per se

4353201, 435325, 435364, 435365, 435367, 435369, 536 232, 536 2431, C12N 506, C12N 1585, C07H 2104

Patent

active

057732787

ABSTRACT:
The present invention relates to the acid sphingomyelinase gene and to methods of diagnosing Niemann-Pick disease. It is based, at least in part, on the cloning and expression of the full-length cDNA encoding acid sphingomyelinase and on the discovery of mutations in the acid sphingomyelinase gene of Ashkenazi Jewish Niemann-Pick disease patients.

REFERENCES:
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Weiler, S. et al., 1988, J. Cell Biol. 107:303A, "A Complementation Approach to Cloning the Gene For Acid Sphingomyelinase."
Navon, R. et al., 1989, Science 243:1471-1474, "The Mutations in Ashkenazi Jews with Adult G.sup.MZ Gangliosidosis, The Adult Form of Tay-Sachs Disease."
Triggs-Raine, B.L. et al., 1990, New Engl. J. Med. 323:6-12, "Screening for Carriers of Tay-Sachs Disease Among Ashkenazi Jews. A Comparison of DNA-Based and Enzyme-Based Tests."
Levran, O. et al., 1991, Proc. Natl. Acad. Sci. USA 88:3748-3752, "Niemann-Pick Disease: A Frequent Missense Mutation in the Acid Sphingomyelinase Gene of Ashkenazi Jewish Type A and B Patients."
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