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Cav1.4 dysfunction and congenital stationary night blindness type 2.
Koschak A, Fernandez-Quintero ML, Heigl T, Ruzza M, Seitter H, Zanetti L. Koschak A, et al. Pflugers Arch. 2021 Sep;473(9):1437-1454. doi: 10.1007/s00424-021-02570-x. Epub 2021 Jul 1. Pflugers Arch. 2021. PMID: 34212239 Free PMC article. Review.
In humans, mutations in the CACNA1F gene encoding for Cav1.4 channels are associated with X-linked retinal disorders such as congenital stationary night blindness type 2. Mutations in the Cav1.4 protein result in a spectrum of altered functional …
In humans, mutations in the CACNA1F gene encoding for Cav1.4 channels are associated with X-linked retinal disorders such as congenital …
Calcium channels and channelopathies of the central nervous system.
Pietrobon D. Pietrobon D. Mol Neurobiol. 2002 Feb;25(1):31-50. doi: 10.1385/MN:25:1:031. Mol Neurobiol. 2002. PMID: 11890456 Review.
The human diseases comprise: 1) a recessive retinal disorder, X-linked congenital stationary night blindness, associated with mutations in the CACNA1F gene, encoding alpha(1)1.4 subunits of L-type channels; and 2) a group of rare allelic autosom …
The human diseases comprise: 1) a recessive retinal disorder, X-linked congenital stationary night blindness, as …