An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency

Photoreceptor dysplasia, characterized by formation of folds and (pseudo-)rosettes in the outer retina, is associated with loss of functional nuclear receptor subfamily 2 group E member 3 (NR2E3) and neural retina leucine-zipper (NRL) in both humans and mice. A sensitized chemical mutagenesis study...

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Xehetasun bibliografikoak
Argitaratua izan da:Hum Mol Genet
Egile Nagusiak: Kong, Yang, Zhao, Lihong, Charette, Jeremy R, Hicks, Wanda L, Stone, Lisa, Nishina, Patsy M, Naggert, Jürgen K
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2018
Gaiak:
General Article
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6140785/
https://ncbi.nlm.nih.gov/pubmed/29947801
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy238
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