Nucleic acid compositions for the alpha chain of beta-hexosamini

Details Nucleic acid compositions for the alpha chain of beta-hexosamini Nucleic acid compositions for the alpha chain of beta-hexosamini

1993-12-07

1995-12-12

Jones, W. Gary

Organic compounds -- part of the class 532-570 series

Organic compounds

Carbohydrates or derivatives

435 6, 435 693, 435 912, 4351723, 435810, 436501, 436 221, 436 241, 436 243, 436 2432, 436 2433, 935 77, 935 78, C07H 2104, C12Q 168

Patent

active

054750954

ABSTRACT:
Methods are disclosed of detecting mutations in the alpha chain gene that makes pre-natal diagnosis of Tay-Sachs disease possible. Screening for carrier heterozygotes of Tay-Sachs is made feasible by this invention.

REFERENCES:
patent: 5217865 (1993-06-01), Myerowitz
Myerowitz et al. (1985) Proc. Nat'l Acad Sci (USA) vol. 82, pp. 7830-7834.
Proia et al. (1987) the Journal of Biological Chemistry, vol. 262, No. 12, pp. 5677-5681.
Myerowitz et al. (1984) Proc. Nat'l Acad. Sci (USA), vol. 81, pp. 5394-5398.
Korneluk et al. (1986) the Journal of Biological Chemistry, vol. 261, No. 18, pp. 8407-8413.
Proia et al. (1982) Proc. Nat'l Acad. Sci (USA), vol. 79, pp. 6360-6364.

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