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A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration
BACKGROUND: The GNAT1 gene encodes the α subunit of the rod transducin protein, a key element in the rod phototransduction cascade. Variants in GNAT1 have been implicated in stationary night-blindness in the past, but unlike other proteins in the same pathway, it has not previously been implicated i...
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| Publié dans: | Br J Ophthalmol |
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| Auteurs principaux: | , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BMJ Publishing Group
2016
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4826887/ https://ncbi.nlm.nih.gov/pubmed/26472407 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bjophthalmol-2015-306939 |
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