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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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7584600/
https://ncbi.nlm.nih.gov/pubmed/33110609
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-00122-w
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