Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A)

Congenital stationary night blindness 2A (CSNB2A) is an X-linked retinal disorder, characterized by phenotypically variable signs and symptoms of impaired vision. CSNB2A is due to mutations in CACNA1F, which codes for the pore-forming α(1F) subunit of a L-type voltage-gated calcium channel, Ca(v)1.4...

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Detalles Bibliográficos
Autores principales: Waldner, D. M., Giraldo Sierra, N. C., Bonfield, S., Nguyen, L., Dimopoulos, I. S., Sauvé, Y., Stell, W. K., Bech-Hansen, N. T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2018
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972796/
https://www.ncbi.nlm.nih.gov/pubmed/29179637
http://dx.doi.org/10.1080/19336950.2017.1401688

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