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Congenital Stationary Night Blindness Type 2 Mutations S229P, G369D, L1068P, and W1440X Alter Channel Gating or Functional Expression of Ca(v)1.4 L-type Ca(2+) Channels
Mutations in the CACNA1F gene (voltage-dependent L-type calcium channel α1F subunit) encoding retinal Ca(v)1.4 L-type Ca(2+) channels cause X-linked recessive congenital stationary night blindness type 2 (CSNB2). Many of them are predicted to yield nonfunctional channels. Complete loss of Ca(v)1.4 f...
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| Publié dans: | J Neurosci |
|---|---|
| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
Society for Neuroscience
2005
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6725195/ https://ncbi.nlm.nih.gov/pubmed/15634789 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1523/JNEUROSCI.3054-04.2005 |
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