Gene Therapy for Retinitis Pigmentosa Caused by MFRP Mutations: Human Phenotype and Preliminary Proof of Concept

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 charac...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Mary Ann Liebert, Inc. 2011
Aiheet:
Research Articles
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3327606/
https://ncbi.nlm.nih.gov/pubmed/22142163
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/hum.2011.169
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