Disease-associated mutations of claudin-19 disrupt retinal neurogenesis and visual function

Mutations of claudin-19 cause Familial Hypomagnesaemia and Hypercalciuria, Nephrocalcinosis with Ocular Involvement. To study the ocular disease without the complications of the kidney disease, naturally occurring point mutations of human CLDN19 were recreated in human induced pluripotent cells or o...

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Detalles Bibliográficos
Autores principales: Wang, Shao-Bin, Xu, Tao, Peng, Shaomin, Singh, Deepti, Ghiassi-Nejad, Maryam, Adelman, Ron A., Rizzolo, Lawrence J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6433901/
https://www.ncbi.nlm.nih.gov/pubmed/30937396
http://dx.doi.org/10.1038/s42003-019-0355-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6433901/
https://www.ncbi.nlm.nih.gov/pubmed/30937396
http://dx.doi.org/10.1038/s42003-019-0355-0

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