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2001 | 1 |
2021 | 1 |
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Bardet-Biedl syndrome-7 (BBS7) shows treatment potential and a cone-rod dystrophy phenotype that recapitulates the non-human primate model.
Ophthalmic Genet. 2021 Jun;42(3):252-265. doi: 10.1080/13816810.2021.1888132. Epub 2021 Mar 17.
Ophthalmic Genet. 2021.
PMID: 33729075
Free PMC article.
Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7.
La Spada AR, Fu YH, Sopher BL, Libby RT, Wang X, Li LY, Einum DD, Huang J, Possin DE, Smith AC, Martinez RA, Koszdin KL, Treuting PM, Ware CB, Hurley JB, Ptácek LJ, Chen S.
La Spada AR, et al.
Neuron. 2001 Sep 27;31(6):913-27. doi: 10.1016/s0896-6273(01)00422-6.
Neuron. 2001.
PMID: 11580893
Free article.
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