Article
Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.
Proceedings of the National Academy of Sciences of the United States of America - 21 Dec 2004
Nishiguchi Koji M, Friedman James S, Sandberg Michael A, Swaroop Anand, Berson Eliot L, Dryja Thaddeus P
Abstract excerpt
Mice lacking the transcription factor Nrl have no rod photoreceptors and an increased number of short-wavelength-sensitive cones. Missense mutations in NRL are associated with autosomal dominant retinitis pigmentosa; however, the phenotype associated with the loss of NRL function in humans has not been reported. We identified two siblings who carried two allelic mutations: a predicted null allele (L75fs) and a...
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