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2025
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2004 | 1 |
2014 | 2 |
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Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.
Am J Hum Genet. 2004 May;74(5):817-26. doi: 10.1086/383228. Epub 2004 Mar 23.
Am J Hum Genet. 2004.
PMID: 15042513
Free PMC article.
Generation and characterization of a murine model of Bietti crystalline dystrophy.
Lockhart CM, Nakano M, Rettie AE, Kelly EJ.
Lockhart CM, et al.
Invest Ophthalmol Vis Sci. 2014 Aug 12;55(9):5572-81. doi: 10.1167/iovs.13-13717.
Invest Ophthalmol Vis Sci. 2014.
PMID: 25118264
Free PMC article.
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Novel insights into the molecular pathogenesis of CYP4V2-associated Bietti's retinal dystrophy.
Astuti GD, Sun V, Bauwens M, Zobor D, Leroy BP, Omar A, Jurklies B, Lopez I, Ren H, Yazar V, Hamel C, Kellner U, Wissinger B, Kohl S, De Baere E, Collin RW, Koenekoop RK.
Astuti GD, et al.
Mol Genet Genomic Med. 2015 Jan;3(1):14-29. doi: 10.1002/mgg3.109. Epub 2014 Sep 15.
Mol Genet Genomic Med. 2015.
PMID: 25629076
Free PMC article.
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