Ontology highlight
ABSTRACT:
SUBMITTER: Dinculescu A
PROVIDER: S-EPMC3327606 | biostudies-literature | 2012 Apr
REPOSITORIES: biostudies-literature
Dinculescu Astra A Estreicher Jackie J Zenteno Juan C JC Aleman Tomas S TS Schwartz Sharon B SB Huang Wei Chieh WC Roman Alejandro J AJ Sumaroka Alexander A Li Qiuhong Q Deng Wen-Tao WT Min Seok-Hong SH Chiodo Vince A VA Neeley Andy A Liu Xuan X Shu Xinhua X Matias-Florentino Margarita M Buentello-Volante Beatriz B Boye Sanford L SL Cideciyan Artur V AV Hauswirth William W WW Jacobson Samuel G SG
Human gene therapy 20120126 4
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 degeneration may be a candidate for gene-based therapy. Proof-of-concept studies were perf ...[more]