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]
Producer: 20130409Description: 1411-6 p. digitalISSN:- 1552-5783
- 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
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Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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