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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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Détails bibliographiques
Publié dans:J Neurosci
Auteurs principaux: Hoda, Jean-Charles, Zaghetto, Francesca, Koschak, Alexandra, Striessnig, Jörg
Format: Artigo
Langue:Inglês
Publié: Society for Neuroscience 2005
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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