A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis

참고문헌 (10)

1. Molday RS, "X-linked juvenile retinoschisis : clinical diagnosis, genetic analysis, and molecular mechanisms", Prog Retin Eye Res, 31, pp.195~212 (2012)
2. Kim DY, "X-linked juvenile retinoschisis(XLRS) : a review of genotype-phenotype relationships", Semin Ophthalmol, 28, pp.392~396 (2013)
3. Da Hyun Kim, "A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis", Journal of Genetic Medicine, 15(1), pp.13~16 (2018), 대한의학유전학회[DOI]
4. Kim SY, "Molecular genetic characteristics of X-linked retinoschisis in Koreans", Mol Vis, 15, pp.833~843 (2009)
5. Hyoung Jun Koh, "A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis", Korean Journal of Ophthalmology, 20(1), pp.62~64 (2006), 대한안과학회
6. "Korean Reference Genome Database (KRGDB)" (2018)[URL]
7. "Genome Aggregation Database (gnomAD)" (2018)[URL]
8. Richards S, "Standards and guidelines for the interpretation of sequence variants : a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
9. "The Human Gene Mutation Database (HGMD)" (2018)[URL]
10. Vincent A, "A phenotype-genotype correlation study of X-linked retinoschisis", Ophthalmology, 120, pp.1454~1464 (2013)

관련 논문AI추천