Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene. [electronic resource]
Producer: 20140930Description: 325-33 p. digitalISSN:- 1090-0535
- Adaptor Proteins, Signal Transducing -- genetics
- Adolescent
- Adult
- Aged
- Child
- Choroideremia -- genetics
- DNA Mutational Analysis
- Electroretinography
- Family
- Female
- Fluorescein Angiography
- Fundus Oculi
- Humans
- Immunoblotting
- Italy
- Male
- Middle Aged
- Mutation -- genetics
- Pedigree
- Phenotype
- RNA Splice Sites -- genetics
- Tomography, Optical Coherence
- Visual Fields
- Young Adult
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Publication Type: Case Reports; Journal Article
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