Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of CHM Gene Transcription

Choroideremia (CHM) is a X-linked recessive chorioretinal dystrophy due to deficiency of the CHM gene product, i.e., Rab escort protein isoform 1 (REP1). To date, gene therapy for CHM has shown variable effectiveness, likely because the underlying pathogenic mechanisms as well as genotype-phenotype...

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Detalles Bibliográficos
Autores principales: Fioretti, Tiziana, Di Iorio, Valentina, Lombardo, Barbara, De Falco, Francesca, Cevenini, Armando, Cattaneo, Fabio, Testa, Francesco, Pastore, Lucio, Simonelli, Francesca, Esposito, Gabriella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8392058/
https://www.ncbi.nlm.nih.gov/pubmed/34440285
http://dx.doi.org/10.3390/genes12081111

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