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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Detalles Bibliográficos
Autores principales: Carrigan, Matthew, Duignan, Emma, Humphries, Pete, Palfi, Arpad, Kenna, Paul F, Farrar, G Jane
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2016
Materias:
Clinical Science
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4826887/
https://www.ncbi.nlm.nih.gov/pubmed/26472407
http://dx.doi.org/10.1136/bjophthalmol-2015-306939

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4826887/
https://www.ncbi.nlm.nih.gov/pubmed/26472407
http://dx.doi.org/10.1136/bjophthalmol-2015-306939

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