Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene.

Contestabile, Maria T

Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene. [electronic resource] - Molecular vision 2014 - 325-33 p. digital

Publication Type: Case Reports; Journal Article

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