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Suppression of Ca(2+) signaling in a mouse model of Best disease

Mutations in BEST1, encoding bestrophin-1 (Best1), cause Best vitelliform macular dystrophy (BVMD), a dominantly inherited macular degeneration characterized by a diminished electrooculogram light peak (LP), lipofuscin in retinal pigment epithelial cells (RPE), and fluid- and debris-filled retinal d...

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Autors principals: Zhang, Youwen, Stanton, J. Brett, Wu, Jiang, Yu, Kuai, Hartzell, H. Criss, Peachey, Neal S., Marmorstein, Lihua Y., Marmorstein, Alan D.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2010
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC2830833/
https://ncbi.nlm.nih.gov/pubmed/20053664
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp583
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