Ontology highlight
ABSTRACT:
SUBMITTER: Fuster-Garcia C
PROVIDER: S-EPMC5573797 | biostudies-literature | 2017 Sep
REPOSITORIES: biostudies-literature
Fuster-García Carla C García-García Gema G González-Romero Elisa E Jaijo Teresa T Sequedo María D MD Ayuso Carmen C Vázquez-Manrique Rafael P RP Millán José M JM Aller Elena E
Molecular therapy. Nucleic acids 20170812
Usher syndrome (USH) is a rare autosomal recessive disease and the most common inherited form of combined visual and hearing impairment. Up to 13 genes are associated with this disorder, with USH2A being the most prevalent, due partially to the recurrence rate of the c.2299delG mutation. Excluding hearing aids or cochlear implants for hearing impairment, there are no medical solutions available to treat USH patients. The repair of specific mutations by gene editing is, therefore, an interesting ...[more]