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In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.
Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C, Parapuram SK, Cheng H, Scott A, Hurd RE, Sayer JA, Otto EA, Attanasio M, O'Toole JF, Jin G, Shou C, Hildebrandt F, Williams DS, Heckenlively JR, Swaroop A. Chang B, et al. Hum Mol Genet. 2006 Jun 1;15(11):1847-57. doi: 10.1093/hmg/ddl107. Epub 2006 Apr 21. Hum Mol Genet. 2006. PMID: 16632484 Free PMC article.
New mouse primary retinal degeneration (rd-3).
Chang B, Heckenlively JR, Hawes NL, Roderick TH. Chang B, et al. Genomics. 1993 Apr;16(1):45-9. doi: 10.1006/geno.1993.1138. Genomics. 1993. PMID: 8486383
Characterization of the mouse Prox1 gene.
Tomarev SI, Zinovieva RD, Chang B, Hawes NL. Tomarev SI, et al. Among authors: chang b. Biochem Biophys Res Commun. 1998 Jul 30;248(3):684-9. doi: 10.1006/bbrc.1998.8989. Biochem Biophys Res Commun. 1998. PMID: 9703987
4,185 results