Expanding the genetic spectrum of choroideremia in an Australian cohort: report of five novel CHM variants

Choroideremia is an X-linked chorioretinal dystrophy caused by mutations in the CHM gene. Several CHM gene replacement clinical trials are in advanced stages. In this study, we report the molecular confirmation of choroideremia in 14 Australian families sourced from the Australian Inherited Retinal...

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Detalles Bibliográficos
Autores principales: McLaren, Terri L., De Roach, John N., Thompson, Jennifer A., Chen, Fred K., Mackey, David A., Hoffmann, Ling, Urwin, Isabella R., Lamey, Tina M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7584600/
https://www.ncbi.nlm.nih.gov/pubmed/33110609
http://dx.doi.org/10.1038/s41439-020-00122-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7584600/
https://www.ncbi.nlm.nih.gov/pubmed/33110609
http://dx.doi.org/10.1038/s41439-020-00122-w

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