Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W
Author:
Publisher
Elsevier BV
Subject
General Neuroscience
Reference38 articles.
1. Functional characterization of the L-type Ca2+ channel Cav1.4alpha1 from mouse retina;Baumann;Invest Ophthalmol Vis Sci,2004
2. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness;Bech-Hansen;Nat Genet,1998
3. A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants;Boycott;Hum Genet,2001
4. Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F;Boycott;Can J Ophthalmol,2000
5. The Cav1.4 calcium channel: More than meets the eye;Doering;Channels,2007
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3. A non-conducting role of the Cav1.4 Ca2+ channel drives homeostatic plasticity at the cone photoreceptor synapse;2024-08-07
4. Diagnosis of Incomplete Congenital Stationary Night Blindness in a 2-year-old boy;Klinische Monatsblätter für Augenheilkunde;2024-04-23
5. A non-conducting role of the Cav1.4 Ca2+channel drives homeostatic plasticity at the cone photoreceptor synapse;2023-12-06
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