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Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A)
Congenital stationary night blindness 2A (CSNB2A) is an X-linked retinal disorder, characterized by phenotypically variable signs and symptoms of impaired vision. CSNB2A is due to mutations in CACNA1F, which codes for the pore-forming α(1F) subunit of a L-type voltage-gated calcium channel, Ca(v)1.4...
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| 發表在: | Channels (Austin) |
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| Main Authors: | , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Taylor & Francis
2018
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5972796/ https://ncbi.nlm.nih.gov/pubmed/29179637 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/19336950.2017.1401688 |
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