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22. Clinical features and possible founder mutation of the 8bp duplication mutation in the SLC4A11 gene causing corneal dystrophy and perceptive deafness in three South American families. Romero PT; Donoso R; López P; Miranda A; Rodríguez L; Chrzanowsky D; Asenjo MS; Burgos G; Villegas P; Desir J; Moya G; Herrera LM Ophthalmic Genet; 2019 Apr; 40(2):91-98. PubMed ID: 30856043 [TBL] [Abstract][Full Text] [Related]
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37. A novel nonsense mutation of the SLC4A11 gene in a Korean patient with autosomal recessive congenital hereditary endothelial dystrophy. Park SH; Jeong HJ; Kim M; Kim MS Cornea; 2013 Jul; 32(7):e181-2. PubMed ID: 23615275 [No Abstract] [Full Text] [Related]