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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

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