Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish

Mutations in KCNJ13 are associated with two retinal disorders; Leber congenital amaurosis (LCA) and snowflake vitreoretinal degeneration (SVD). We describe a novel fibrovascular proliferation in the retina of two affected members of a KCNJ13-related LCA family with a homozygous c.458C > T, p.(Thr...

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Detalles Bibliográficos
Autores principales: Toms, Maria, Dubis, Adam M., Lim, Wei Sing, Webster, Andrew R., Gorin, Michael B., Moosajee, Mariya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academic Press 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899441/
https://www.ncbi.nlm.nih.gov/pubmed/31647904
http://dx.doi.org/10.1016/j.exer.2019.107852

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6899441/
https://www.ncbi.nlm.nih.gov/pubmed/31647904
http://dx.doi.org/10.1016/j.exer.2019.107852

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