Genes associated with retinal dystrophies

摘要

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.