Development and biological characterization of a clinical gene transfer vector for the treatment of MAK-associated retinitis pigmentosa

By combining next generation whole exome sequencing and induced pluripotent stem cell (iPSC) technology we found that an Alu repeat inserted in exon 9 of the MAK gene results in a loss of normal MAK transcript and development of human autosomal recessive retinitis pigmentosa (RP). Although a relativ...

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Detalles Bibliográficos
Autores principales: Tucker, Budd A., Burnight, Erin R., Cranston, Cathryn M., Ulferts, Mallory J., Luse, Meagan A., Westfall, Trudi, Scott, C. Anthony, Marsden, Autumn, Gibson-Corley, Katherine, Wiley, Luke A., Han, Ian C., Slusarski, Diane C., Mullins, Robert F., Stone, Edwin M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9159943/
https://www.ncbi.nlm.nih.gov/pubmed/34518651
http://dx.doi.org/10.1038/s41434-021-00291-5

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