Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa.

Churchill, Jennifer D

Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa. [electronic resource] - Investigative ophthalmology & visual science Feb 2013 - 1411-6 p. digital

Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

1552-5783

10.1167/iovs.12-11541 doi


Adult
DNA--genetics
Electroretinography
Eye Proteins--genetics
Female
GTP-Binding Proteins
Genes, X-Linked--genetics
Genetic Diseases, X-Linked--diagnosis
Guanine Nucleotide Exchange Factors
Humans
Intracellular Signaling Peptides and Proteins--genetics
Male
Membrane Proteins--genetics
Mutation
Pedigree
Phenotype
Polymerase Chain Reaction
Retinitis Pigmentosa--diagnosis