PubMed · 1999 · 53 citations · 31 references
X-linked retinal degeneration is characterized by initial degeneration of rod photoreceptors, followed by loss of cones and progressive atrophy of the inner retina. Carrier females display a phenotype consistent with random X-chromosome inactivation. Variation in genetic background may alter expression of the disease allele in affected animals, thus accounting for variation in phenotypic expression of the disease.
31
Positional cloning of the gene for X-linked retinitis pigmentosa 2
Uwe Schwahn, Steffen Lenzner, Juan Dong et al. · Nature Genetics · 1998 · 381 citations