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| A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis |
| Hyoung Jun Koh, Nam Soo Jwa, Sung Soo Kim, Sung Chul Lee, Oh Woong Kwon |
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Korean J Ophthalmol. 2006;20(1):62-64. Published online March 31, 2006 DOI: https://doi.org/10.3341/kjo.2006.20.1.62 |
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A Novel Mutation in the XLRS1 Gene in a Korean Family with X-linked Retinoschisis Korean Journal of Ophthalmology. 2006;20(1):62  Electroretinographic Findings in Three Family Members with X-linked Juvenile Retinoschisis Associated with a Novel Pro192Thr Mutation of the XLRS1 Gene Japanese Journal of Ophthalmology. 2002;46(5):568-576 A novel mutation K167X of the XLRS1 gene (RS1) in a Taiwanese family with X-linked juvenile retinoschisis Human Mutation. 2000;16(5):449-449 Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families Japanese Journal of Ophthalmology. 2008;52(1):48-51 Novel 473-bp deletion in XLRS1 gene in a Japanese family with X-linked juvenile retinoschisis Graefe's Archive for Clinical and Experimental Ophthalmology. 2004;242(7):561-565 X-linked retinoschisis with a novel substitutive amino acid (P193S) in XLRS1 Human Mutation. 1999;13(3):259-259 X-linked retinoschisis: report of a family with a rare deletion in the xLRS1 gene American Journal of Ophthalmology. 2003;136(3):547-549 Two novel point mutations of the XLRS1 gene in patients with X-linked juvenile retinoschisis American Journal of Ophthalmology. 2002;134(4):622-624 Identification of XLRS1 Gene Mutation (608C>T) in a Portuguese Family with Juvenile Retinoschisis European Journal of Ophthalmology. 2005;15(5):638-640 Unusual Phenotypic Expression of an XLRS1 Mutation in X-Linked Juvenile Retinoschisis Journal of Child Neurology. 2006;21(4):331-333 |
