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Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21).
Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A, Nuangchamnong N, Scott CA, Slusarski DC, Sheffield VC. Heon E, et al. Among authors: garrison je. Hum Mol Genet. 2016 Jun 1;25(11):2283-2294. doi: 10.1093/hmg/ddw096. Epub 2016 Mar 22. Hum Mol Genet. 2016. PMID: 27008867 Free PMC article.
Subretinal gene therapy delays vision loss in a Bardet-Biedl Syndrome type 10 mouse model.
Hsu Y, Bhattarai S, Thompson JM, Mahoney A, Thomas J, Mayer SK, Datta P, Garrison J, Searby CC, Vandenberghe LH, Seo S, Sheffield VC, Drack AV. Hsu Y, et al. Mol Ther Nucleic Acids. 2022 Dec 12;31:164-181. doi: 10.1016/j.omtn.2022.12.007. eCollection 2023 Mar 14. Mol Ther Nucleic Acids. 2022. PMID: 36700052 Free PMC article.
13 results