Article
Gene therapy for retinitis pigmentosa caused by MFRP mutations: human phenotype and preliminary proof of concept.
Human gene therapy - 1 Apr 2012
Dinculescu Astra, Estreicher Jackie, Zenteno Juan C, Aleman Tomas S, Schwartz Sharon B, Huang Wei Chieh, Roman Alejandro J, Sumaroka Alexander, Li Qiuhong, Deng Wen-Tao, Min Seok-Hong, Chiodo Vince A, Neeley Andy, Liu Xuan, Shu Xinhua, Matias-Florentino Margarita, Buentello-Volante Beatriz, Boye Sanford L, Cideciyan Artur V, Hauswirth William W, Jacobson Samuel G
Abstract excerpt
Autosomal recessive retinitis pigmentosa (RP), a heterogeneous group of degenerations of the retina, can be due to mutations in the MFRP (membrane-type frizzled-related protein) gene. A patient with RP with MFRP mutations, one of which is novel and the first splice site mutation reported, was characterized by noninvasive retinal and visual studies. The phenotype, albeit complex, suggested that this retinal...
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