Genes associated with retinal dystrophies

Details Genes associated with retinal dystrophies Genes associated with retinal dystrophies

1996-08-22

1997-11-11

Chan, Christina Y.

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

Organic compounds

Carbohydrates or derivatives

C07H 2104

Patent

active

056865988

ABSTRACT:
The gene responsible for the autosomal recessive retinal degenerative disease RP 14 is identified, TULP1. The genes are used to produce the encoded protein; in screening for compositions that modulate the expression or function of TULP1 protein; and in studying associated physiological pathways. The DNA is further used as a diagnostic for genetic predisposition to retinal degeneration.

REFERENCES:
North, MA et al. Proc Nat Acad Sci (USA). 94: 3128-3133 Apr. 1, 1997.

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