Long-Term Effects of Gene Therapy in a Novel Mouse Model of Human MFRP-Associated Retinopathy

Patients harboring homozygous c.498_499insC mutations in MFRP demonstrate hyperopia, microphthalmia, retinitis pigmentosa, retinal pigment epithelial atrophy, variable degrees of foveal edema, and optic disc drusen. The disease phenotype is variable, however, with some patients maintaining good cent...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Hum Gene Ther
Egile Nagusiak: Chekuri, Anil, Sahu, Bhubanananda, Chavali, Venkata Ramana Murthy, Voronchikhina, Marina, Soto-Hermida, Angel, Suk, John J., Alapati, Akhila N., Bartsch, Dirk-Uwe, Ayala-Ramirez, Raul, Zenteno, Juan C., Dinculescu, Astra, Jablonski, Monica M., Borooah, Shyamanga, Ayyagari, Radha
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Mary Ann Liebert, Inc., publishers 2019
Gaiak:
Research Articles
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC6534092/
https://ncbi.nlm.nih.gov/pubmed/30499344
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/hum.2018.192
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