Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR

Mutations in RPGR (retinitis pigmentosa GTPase regulator) are the most common cause of X-linked RP, a severe blindness disorder. RPGR mutations result in clinically variable disease with early- to late-onset phenotypic presentation. Molecular mechanisms underlying such heterogeneity are unclear. Her...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Mol Genet
Egile Nagusiak: Rao, Kollu N., Zhang, Wei, Li, Linjing, Ronquillo, Cecinio, Baehr, Wolfgang, Khanna, Hemant
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Oxford University Press 2016
Gaiak:
Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5062589/
https://ncbi.nlm.nih.gov/pubmed/26936822
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddw075
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak