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5. A novel recessive mutation in the gene ELOVL4 causes a neuro-ichthyotic disorder with variable expressivity. Mir H; Raza SI; Touseef M; Memon MM; Khan MN; Jaffar S; Ahmad W BMC Med Genet; 2014 Feb; 15():25. PubMed ID: 24571530 [TBL] [Abstract][Full Text] [Related]
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8. Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia. Cadieux-Dion M; Turcotte-Gauthier M; Noreau A; Martin C; Meloche C; Gravel M; Drouin CA; Rouleau GA; Nguyen DK; Cossette P JAMA Neurol; 2014 Apr; 71(4):470-5. PubMed ID: 24566826 [TBL] [Abstract][Full Text] [Related]
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11. Mutant ELOVL4 that causes autosomal dominant stargardt-3 macular dystrophy is misrouted to rod outer segment disks. Agbaga MP; Tam BM; Wong JS; Yang LL; Anderson RE; Moritz OL Invest Ophthalmol Vis Sci; 2014 May; 55(6):3669-80. PubMed ID: 24833735 [TBL] [Abstract][Full Text] [Related]
12. A novel mutation in the ELOVL4 gene causes autosomal dominant Stargardt-like macular dystrophy. Maugeri A; Meire F; Hoyng CB; Vink C; Van Regemorter N; Karan G; Yang Z; Cremers FP; Zhang K Invest Ophthalmol Vis Sci; 2004 Dec; 45(12):4263-7. PubMed ID: 15557430 [TBL] [Abstract][Full Text] [Related]
13. Epidermal expression of an Elovl4 transgene rescues neonatal lethality of homozygous Stargardt disease-3 mice. McMahon A; Butovich IA; Kedzierski W J Lipid Res; 2011 Jun; 52(6):1128-1138. PubMed ID: 21429867 [TBL] [Abstract][Full Text] [Related]
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15. Analysis of ELOVL4 and PRPH2 genes in Turkish Stargardt disease patients. Bardak H; Gunay M; Erçalık Y; Bardak Y; Ozbas H; Bagci O; Ayata A; Sönmez M; Alagöz C Genet Mol Res; 2016 Oct; 15(4):. PubMed ID: 27813578 [TBL] [Abstract][Full Text] [Related]
16. Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis? Donato L; Scimone C; Rinaldi C; Aragona P; Briuglia S; D'Ascola A; D'Angelo R; Sidoti A Invest Ophthalmol Vis Sci; 2018 Feb; 59(2):843-857. PubMed ID: 29417145 [TBL] [Abstract][Full Text] [Related]
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18. Genetics and molecular pathology of Stargardt-like macular degeneration. Vasireddy V; Wong P; Ayyagari R Prog Retin Eye Res; 2010 May; 29(3):191-207. PubMed ID: 20096366 [TBL] [Abstract][Full Text] [Related]
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20. Novel Cellular Functions of Very Long Chain-Fatty Acids: Insight From ELOVL4 Mutations. Deák F; Anderson RE; Fessler JL; Sherry DM Front Cell Neurosci; 2019; 13():428. PubMed ID: 31616255 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]