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6. Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval. Aldave AJ; Yellore VS; Vo RC; Kamal KM; Rayner SA; Plaisier CL; Chen MC; Damani MR; Pham MN; Gorin MB; Sobel E; Papp J Cornea; 2009 Aug; 28(7):801-7. PubMed ID: 19574904 [TBL] [Abstract][Full Text] [Related]
7. A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy. Jing Y; Liu C; Xu J; Wang L Mol Vis; 2009 Jul; 15():1463-9. PubMed ID: 19649163 [TBL] [Abstract][Full Text] [Related]
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11. Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy. Weiss JS; Wiaux C; Yellore V; Raber I; Eagle R; Mequio M; Aldave A Cornea; 2010 Jul; 29(7):777-80. PubMed ID: 20489584 [TBL] [Abstract][Full Text] [Related]
12. Clinical diversity in patients with Schnyder corneal dystrophy-a novel and known UBIAD1 pathogenic variants. Sarosiak A; Udziela M; Ścieżyńska A; Oziębło D; Wawrzynowska A; Szaflik JP; Ołdak M Graefes Arch Clin Exp Ophthalmol; 2018 Nov; 256(11):2127-2134. PubMed ID: 30084067 [TBL] [Abstract][Full Text] [Related]
13. Functional study of SCCD pathogenic gene Xie J; Li L Mol Med Rep; 2021 Oct; 24(4):. PubMed ID: 34368857 [TBL] [Abstract][Full Text] [Related]
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15. Candidate gene screening for posterior polymorphous dystrophy. Aldave AJ; Yellore VS; Principe AH; Abedi G; Merrill K; Chalukya M; Small KW; Udar N Cornea; 2005 Mar; 24(2):151-5. PubMed ID: 15725882 [TBL] [Abstract][Full Text] [Related]
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20. Identification of Potentially Pathogenic Variants in the Posterior Polymorphous Corneal Dystrophy 1 Locus. Le DJ; Chung DW; Frausto RF; Kim MJ; Aldave AJ PLoS One; 2016; 11(6):e0158467. PubMed ID: 27355326 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]