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Defining the impact of melanopsin missense polymorphisms using in vivo functional rescue

Melanopsin (OPN4) is an opsin photopigment expressed within intrinsically photosensitive retinal ganglion cells (ipRGCs) that mediate non-image forming (NIF) responses to light. Two single-nucleotide polymorphisms (SNPs) in human melanopsin (hOPN4), Pro10Leu and Thr394Ile, have recently been associa...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Rodgers, Jessica, Hughes, Steven, Pothecary, Carina A, Brown, Laurence A, Hickey, Doron G, Peirson, Stuart N, Hankins, Mark W
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6048994/
https://ncbi.nlm.nih.gov/pubmed/29718372
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy150
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