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Identification of Compound Heterozygous EYS Variants in a Korean Patient with Retinitis Pigmentosa

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참고문헌 (13)

  1. Hamel C, "Retinitis pigmentosa", Orphanet J Rare Dis, 1, pp.40~ (2006)[DOI]
  2. Abd El-Aziz MM, "EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa", Nat Genet, 40, pp.1285~1287 (2008)[DOI]
  3. Iwanami M, "High prevalence of mutations in the EYS gene in Japanese patients with autosomal recessive retinitis pigmentosa", Invest Ophthalmol Vis Sci, 53, pp.1033~1040 (2012)[DOI]
  4. Arai Y, "Retinitis pigmentosa with EYS mutations is the most prevalent inherited retinal dystrophy in Japanese populations", J Ophthalmol, 2015, pp.819760~ (2015)
  5. 윤창기, "Strategies for Mutation Discovery in Retinitis Pigmentosa: Transition to the Next Generation", Journal of Genetic Medicine, 10(1), pp.13~19 (2013), 대한의학유전학회
  6. 장미애, "Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea", Annals of Laboratory Medicine, 35(3), pp.362~365 (2015), 대한진단검사의학회
  7. Kumar P, "Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm", Nat Protoc, 4, pp.1073~1081 (2009)[DOI]
  8. Adzhubei IA, "A method and server for predicting damaging missense mutations", Nat Methods, 7, pp.248~249 (2010)[DOI]
  9. Matsuya A, "Evola: Ortholog database of all human genes in H-InvDB with manual curation of phylogenetic trees", Nucleic Acids Res, 36, pp.D787~D792 (2008)
  10. Di Y, "Wholeexome sequencing analysis identies mutations in the EYS gene in retinitis pigmentosa in the Indian population", Sci Rep, 6, pp.19432~ (2016)[DOI]
  11. Gurudev N, "chaoptin, prominin, eyes shut and crumbs form a genetic network controlling the apical compartment of Drosophila photoreceptor cells", Biol Open, 3, pp.332~341 (2014)[DOI]
  12. Khan MI, "Missense mutations at homologous positions in the fourth and fth laminin A G-like domains of eyes shut homolog cause autosomal recessive retinitis pigmentosa", Mol Vis, 16, pp.2753~2759 (2010)
  13. 이선호, "Hereditary and Clinical Features of Retinitis Pigmentosa in Koreans", Journal of Korean Medical Science, 25(6), pp.918~923 (2010), 대한의학회

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