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Ca(v)1.4 congenital stationary night blindness is associated with an increased rate of proteasomal degradation

Pathogenic, generally loss-of-function, variants in CACNA1F, encoding the Ca(v)1.4α(1) calcium channel, underlie congenital stationary night blindness type 2 (CSNB2), a rare inherited retinal disorder associated with visual disability. To establish the underlying pathomechanism, we investigated 10 c...

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Detalles Bibliográficos
Autores principales:	Sadeh, Tal T., Baines, Richard A., Black, Graeme C., Manson, Forbes
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Cell and Developmental Biology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10188973/ https://www.ncbi.nlm.nih.gov/pubmed/37206923 http://dx.doi.org/10.3389/fcell.2023.1161548

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