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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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Detalhes bibliográficos
Publicado no:Commun Biol
Main Authors: Wang, Shao-Bin, Xu, Tao, Peng, Shaomin, Singh, Deepti, Ghiassi-Nejad, Maryam, Adelman, Ron A., Rizzolo, Lawrence J.
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6433901/
https://ncbi.nlm.nih.gov/pubmed/30937396
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s42003-019-0355-0
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