An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene. [electronic resource]
Producer: 20040511Description: 528-32 p. digitalISSN:- 0007-1161
- Adult
- Aged
- Atrophy
- Eye Proteins -- analysis
- Female
- Frameshift Mutation
- Fundus Oculi
- GTP-Binding Proteins
- Gene Deletion
- Heterozygote
- Humans
- Immunoblotting
- Intracellular Signaling Peptides and Proteins
- Lymphocytes -- chemistry
- Male
- Membrane Proteins
- Middle Aged
- Pedigree
- Polymorphism, Single-Stranded Conformational
- Retina -- pathology
- Retinitis Pigmentosa -- genetics
- Sequence Analysis, DNA
- Vision Disorders -- genetics
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Publication Type: Journal Article
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