Maria T Contestabile Maria Piane Nikhil C Cascone Nadia Pasquale Angela Ciarnella Santi M Recupero Luciana Chessa
Mol Vis
2014 Mar 15;20:325-33.
CC BY-NC-ND
https://pubmed.ncbi.nlm.nih.gov/24672218/
Adaptor Proteins, Signal Transducing / genetics Choroideremia / genetics Choroideremia / pathology Mutation / genetics RNA Splice Sites / genetics
Adaptor Proteins, Signal Transducing / genetics Choroideremia / genetics Choroideremia / pathology Mutation / genetics RNA Splice Sites / genetics Case Reports Adaptor Proteins, Signal Transducing / metabolism Adolescent Adult Aged Child Choroideremia / physiopathology DNA Mutational Analysis Electroretinography Family Female Fluorescein Angiography Fundus Oculi Humans Immunoblotting Italy Male Middle Aged Pedigree Phenotype Tomography, Optical Coherence Visual Fields Young Adult Adaptor Proteins, Signal Transducing CHM protein, human RNA Splice Sites
PMC3962727
24672218
Clinical and genetic studies in a family with a new splice-site mutation in the choroideremia gene
2014