Associated Papers
Congenital Stationary Night Blindness (CSNB)-Case Reports and Review of Current Knowledge.
Durajczyk M et al.
Journal of Clinical Medicine, 2025
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Zeitz C et al.
Human Mutation, 2019
What can naturally occurring mutations tell us about Ca(v)1.x channel function?
Stockner T et al.
Biochimica Et Biophysica Acta, 2013
A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.
Hauke J et al.
Plos One, 2013
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.
Wutz K et al.
European Journal of Human Genetics : Ejhg, 2002
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
Strom TM et al.
Nature Genetics, 1998
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